The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Any method used for determining the location of and relative distances between genes on a chromosome.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
Genes that influence the PHENOTYPE only in the homozygous state.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
The magnitude of INBREEDING in humans.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
Genetic loci associated with a QUANTITATIVE TRAIT.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A family composed of spouses and their children.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
A characteristic showing quantitative inheritance such as SKIN PIGMENTATION in humans. (From A Dictionary of Genetics, 4th ed)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
A specific pair of GROUP C CHROMSOMES of the human chromosome classification.
A characteristic symptom complex.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Children who have reached maturity or the legal age of majority.
Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A social group consisting of parents or parent substitutes and children.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A type of analysis in which subjects in a study group and a comparison group are made comparable with respect to extraneous factors by individually pairing study subjects with the comparison group subjects (e.g., age-matched controls).
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Biochemical identification of mutational changes in a nucleotide sequence.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
An individual in which both alleles at a given locus are identical.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Functions constructed from a statistical model and a set of observed data which give the probability of that data for various values of the unknown model parameters. Those parameter values that maximize the probability are the maximum likelihood estimates of the parameters.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
I'm sorry for any confusion, but "Iceland" is a country located in Northern Europe, and it doesn't have a medical definition. If you're referring to a term in medicine that might be associated with Iceland, perhaps you're thinking of "Iceland syndrome," which is a medical condition named after the place where it was first described, not because it's unique to Iceland. It refers to a rare occurrence of unilateral lower limb edema (swelling) due to a deep vein thrombosis (blood clot) in the iliofemoral vein, often associated with malignancy.
I'm sorry for any confusion, but "Pakistan" is a country located in South Asia and it does not have a medical definition. If you have any medical question or term that you would like me to define, please provide it and I will be happy to help.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
A phenotypic outcome (physical characteristic or disease predisposition) that is determined by more than one gene. Polygenic refers to those determined by many genes, while oligogenic refers to those determined by a few genes.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Complex nucleoprotein structures which contain the genomic DNA and are part of the CELL NUCLEUS of MAMMALS.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
The basic subunit of beta-crystallins.
Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero.
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Presence of less than the normal amount of hair. (Dorland, 27th ed)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
I'm sorry for any confusion, but "Finland" is not a medical term and does not have a medical definition. It is a country located in Northern Europe, known officially as the Republic of Finland. If you have any questions related to medical topics or definitions, I would be happy to help with those!
An individual having different alleles at one or more loci regarding a specific character.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
Sequential operating programs and data which instruct the functioning of a digital computer.
Identification of genetic carriers for a given trait.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Members of a Semitic people inhabiting the Arabian peninsula or other countries of the Middle East and North Africa. The term may be used with reference to ancient, medieval, or modern ethnic or cultural groups. (From Random House Unabridged Dictionary, 2d ed)
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

Superimposed histologic and genetic mapping of chromosome 9 in progression of human urinary bladder neoplasia: implications for a genetic model of multistep urothelial carcinogenesis and early detection of urinary bladder cancer. (1/2355)

The evolution of alterations on chromosome 9, including the putative tumor suppressor genes mapped to the 9p21-22 region (the MTS genes), was studied in relation to the progression of human urinary bladder neoplasia by using whole organ superimposed histologic and genetic mapping in cystectomy specimens and was verified in urinary bladder tumors of various pathogenetic subsets with longterm follow-up. The applicability of chromosome 9 allelic losses as non-invasive markers of urothelial neoplasia was tested on voided urine and/or bladder washings of patients with urinary bladder cancer. Although sequential multiple hits in the MTS locus were documented in the development of intraurothelial precursor lesions, the MTS genes do not seem to represent a major target for p21-23 deletions in bladder cancer. Two additional tumor suppressor genes involved in bladder neoplasia located distally and proximally to the MTS locus within p22-23 and p11-13 regions respectively were identified. Several distinct putative tumor suppressor gene loci within the q12-13, q21-22, and q34 regions were identified on the q arm. In particular, the pericentromeric q12-13 area may contain the critical tumor suppressor gene or genes for the development of early urothelial neoplasia. Allelic losses of chromosome 9 were associated with expansion of the abnormal urothelial clone which frequently involved large areas of urinary bladder mucosa. These losses could be found in a high proportion of urothelial tumors and in voided urine or bladder washing samples of nearly all patients with urinary bladder carcinoma.  (+info)

Temporal and multiple quantitative trait loci analyses of resistance to bacterial wilt in tomato permit the resolution of linked loci. (2/2355)

Ralstonia solanacearum is a soil-borne bacterium that causes the serious disease known as bacterial wilt in many plant species. In tomato, several QTL controlling resistance have been found, but in different studies, markers spanning a large region of chromosome 6 showed strong association with the resistance. By using two different approaches to analyze the data from a field test F3 population, we show that at least two separate loci approximately 30 cM apart on this chromosome are most likely involved in the resistance. First, a temporal analysis of the progression of symptoms reveals a distal locus early in the development of the disease. As the disease progresses, the maximum LOD peak observed shifts toward the proximal end of the chromosome, obscuring the distal locus. Second, although classical interval mapping could only detect the presence of one locus, a statistical "two-QTL model" test, specifically adapted for the resolution of linked QTL, strongly supported the hypothesis for the presence of two loci. These results are discussed in the context of current molecular knowledge about disease resistance genes on chromosome 6 and observations made by tomato breeders during the production of bacterial wilt-resistant varieties.  (+info)

Homozygosity mapping to the USH2A locus in two isolated populations. (3/2355)

Usher syndrome is a group of autosomal recessive disorders characterised by progressive visual loss from retinitis pigmentosa and moderate to severe sensorineural hearing loss. Usher syndrome is estimated to account for 6-10% of all congenital sensorineural hearing loss. A gene locus in Usher type II (USH2) families has been assigned to a small region on chromosome 1q41 called the UHS2A locus. We have investigated two families with Usher syndrome from different isolated populations. One family is a Norwegian Saami family and the second family is from the Cayman Islands. They both come from relatively isolated populations and are inbred families suitable for linkage analysis. A lod score of 3.09 and 7.65 at zero recombination was reached respectively in the two families with two point linkage analysis to the USH2A locus on 1q41. Additional homozygosity mapping of the affected subjects concluded with a candidate region of 6.1 Mb. This region spans the previously published candidate region in USH2A. Our study emphasises that the mapped gene for USH2 is also involved in patients from other populations and will have implications for future mutation analysis once the USH2A gene is cloned.  (+info)

Genetics of the SCA6 gene in a large family segregating an autosomal dominant "pure" cerebellar ataxia. (4/2355)

Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar degeneration caused by the expansion of a CAG trinucleotide repeat in the CACNA1A gene. Mutations in patients are characterised by expanded alleles of between 21 and 30 repeat units and by extreme gonadal stability when transmitted from parents to children. We have investigated the SCA6 mutation in a large Spanish kindred in which previously reported spinocerebellar SCA genes and loci had been excluded. We observed a 23 CAG repeat expanded allele in the 13 clinically affected subjects and in three out of 10 presymptomatic at risk subjects. Transmission of the mutant allele was stable in six parent to child pairs and in 29 meioses through the pedigree. Linkage analysis with the SCA6-CAG polymorphism and marker D19S221 confirmed the location of SCA6 on chromosome 19p13. The molecular findings in this large family confirm the expansion of the CAG repeat in the CACNA1A gene as the cause of SCA6 and the high meiotic stability of the repeat.  (+info)

Evidence that mutations in the X-linked DDP gene cause incompletely penetrant and variable skewed X inactivation. (5/2355)

X chromosome inactivation results in the random transcriptional silencing of one of the two X chromosomes early in female development. After random inactivation, certain deleterious X-linked mutations can create a selective disadvantage for cells in which the mutation is on the active X chromosome, leading to X inactivation patterns with the mutation on the inactive X chromosome in nearly 100% of the individual's cells. In contrast to the homogeneous patterns of complete skewed inactivation noted for many X-linked disorders, here we describe a family segregating a mutation in the dystonia-deafness peptide (DDP) gene, in which female carriers show incompletely penetrant and variable X inactivation patterns in peripheral blood leukocytes, ranging between 50:50 and >95:5. To address the genetic basis for the unusual pattern of skewing in this family, we first mapped the locus responsible for the variable skewing to the proximal long arm (Xq12-q22) of the X chromosome (Z=5. 7, P=.002, LOD score 3.57), a region that includes both the DDP and the XIST genes. Examination of multiple cell types from women carrying a DDP mutation and of peripheral blood leukocytes from women from two unrelated families who carry different mutations in the DDP gene suggests that the skewed X inactivation is the result of selection against cells containing the mutant DDP gene on the active X chromosome, although skewing is apparently not as severe as that seen for many other deleterious X-linked mutations. Thus, DDP is an example of an X-linked gene for which mutations cause partial cell selection and thus incompletely skewed X inactivation in peripheral blood leukocytes.  (+info)

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (6/2355)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a clinically homogeneous form of early-onset familial spastic ataxia with prominent myelinated retinal nerve fibers. More than 300 patients have been identified, and most of their families originated in the Charlevoix-Saguenay region of northeastern Quebec, where the carrier prevalence has been estimated to be 1/22. Consistent with the hypothesis of a founder effect, we observed excess shared homozygosity at 13q11, among patients in a genomewide scan of 12 families. Analysis of 19 pedigrees demonstrated very tight linkage between the ARSACS locus and an intragenic polymorphism of the gamma-sarcoglycan (SGCG) gene, but genomic DNA sequence analysis of all eight exons of SGCG revealed no disease-causing mutation. On the basis of haplotypes composed of seven marker loci that spanned 11.1 cM, the most likely position of the ARSACS locus was 0.42 cM distal to the SGCG polymorphism. Two groups of ARSACS-associated haplotypes were identified: a large group that carries a common SGCG allele and a small group that carries a rare SGCG allele. The haplotype groups do not appear to be closely related. Therefore, although chromosomes within each haplotype group may harbor a single ARSACS mutation identical by descent, the two mutations could have independent origins.  (+info)

Evidence for a rare prostate cancer-susceptibility locus at chromosome 1p36. (7/2355)

Combining data from a genomic screen in 70 families with a high risk for prostate cancer (PC) with data from candidate-region mapping in these families and an additional 71 families, we have localized a potential hereditary PC-susceptibility locus to chromosome 1p36. Because an excess of cases of primary brain cancer (BC) have been observed in some studies of families with a high risk for PC, and because loss of heterozygosity at 1p36 is frequently observed in BC, we further evaluated 12 families with both a history of PC and a blood relative with primary BC. The overall LOD score in these 12 families was 3.22 at a recombination fraction (theta) of .06, with marker D1S507. On the basis of an a priori hypothesis, this group was stratified by age at diagnosis of PC. In the younger age group (mean age at diagnosis <66 years), a maximum two-point LOD score of 3.65 at straight theta = .0 was observed, with D1S407. This linkage was rejected in both early- and late-onset families without a history of BC (LOD scores -7.12 and -6.03, respectively, at straight theta = .0). After exclusion of 3 of the 12 families that had better evidence of linkage to previously described PC-susceptibility loci, linkage to the 1p36 region was suggested by a two-point LOD score of 4.74 at straight theta = .0, with marker D1S407. We conclude that a significant proportion of these families with both a high risk for PC and a family member with BC show linkage to the 1p36 region.  (+info)

Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. (8/2355)

Two Swedish families with autosomal dominant myopathy, who also had proximal weakness, early respiratory failure, and characteristic cytoplasmic bodies in the affected muscle biopsies, were screened for linkage by means of the human genome screening set (Cooperative Human Linkage Center Human Screening Set/Weber version 6). Most chromosome regions were completely excluded by linkage analysis (LOD score <-2). Linkage to the chromosomal region 2q24-q31 was established. A maximum combined two-point LOD score of 4.87 at a recombination fraction of 0 was obtained with marker D2S1245. Haplotype analysis indicated that the gene responsible for the disease is likely to be located in the 17-cM region between markers D2S2384 and D2S364. The affected individuals from these two families share an identical haplotype, which suggests a common origin.  (+info)

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

Dominant genes refer to the alleles (versions of a gene) that are fully expressed in an individual's phenotype, even if only one copy of the gene is present. In dominant inheritance patterns, an individual needs only to receive one dominant allele from either parent to express the associated trait. This is in contrast to recessive genes, where both copies of the gene must be the recessive allele for the trait to be expressed. Dominant genes are represented by uppercase letters (e.g., 'A') and recessive genes by lowercase letters (e.g., 'a'). If an individual inherits one dominant allele (A) from either parent, they will express the dominant trait (A).

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

Genetic heterogeneity is a phenomenon in genetics where different genetic variations or mutations in various genes can result in the same or similar phenotypic characteristics, disorders, or diseases. This means that multiple genetic alterations can lead to the same clinical presentation, making it challenging to identify the specific genetic cause based on the observed symptoms alone.

There are two main types of genetic heterogeneity:

1. Allelic heterogeneity: Different mutations in the same gene can cause the same or similar disorders. For example, various mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder affecting the respiratory and digestive systems.
2. Locus heterogeneity: Mutations in different genes can result in the same or similar disorders. For instance, mutations in several genes, such as BRCA1, BRCA2, and PALB2, are associated with an increased risk of developing breast cancer.

Genetic heterogeneity is essential to consider when diagnosing genetic conditions, evaluating recurrence risks, and providing genetic counseling. It highlights the importance of comprehensive genetic testing and interpretation for accurate diagnosis and appropriate management of genetic disorders.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).

Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.

Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

Human chromosome pair 19 refers to a group of 19 identical chromosomes that are present in every cell of the human body, except for the sperm and egg cells which contain only 23 chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of DNA (deoxyribonucleic acid) molecules.

Each chromosome is made up of two arms, a shorter p arm and a longer q arm, separated by a centromere. Human chromosome pair 19 is an acrocentric chromosome, which means that the centromere is located very close to the end of the short arm (p arm).

Chromosome pair 19 contains approximately 58 million base pairs of DNA and encodes for around 1,400 genes. It is one of the most gene-dense chromosomes in the human genome, with many genes involved in important biological processes such as metabolism, immunity, and neurological function.

Abnormalities in chromosome pair 19 have been associated with various genetic disorders, including Sotos syndrome, which is characterized by overgrowth, developmental delay, and distinctive facial features, and Smith-Magenis syndrome, which is marked by intellectual disability, behavioral problems, and distinct physical features.

Quantitative Trait Loci (QTL) are regions of the genome that are associated with variation in quantitative traits, which are traits that vary continuously in a population and are influenced by multiple genes and environmental factors. QTLs can help to explain how genetic variations contribute to differences in complex traits such as height, blood pressure, or disease susceptibility.

Quantitative trait loci are identified through statistical analysis of genetic markers and trait values in experimental crosses between genetically distinct individuals, such as strains of mice or plants. The location of a QTL is inferred based on the pattern of linkage disequilibrium between genetic markers and the trait of interest. Once a QTL has been identified, further analysis can be conducted to identify the specific gene or genes responsible for the variation in the trait.

It's important to note that QTLs are not themselves genes, but rather genomic regions that contain one or more genes that contribute to the variation in a quantitative trait. Additionally, because QTLs are identified through statistical analysis, they represent probabilistic estimates of the location of genetic factors influencing a trait and may encompass large genomic regions containing multiple genes. Therefore, additional research is often required to fine-map and identify the specific genes responsible for the variation in the trait.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

A nuclear family, in medical and social sciences, refers to a family structure consisting of two married parents and their biological or adopted children living together in one household. It's the basic unit of a traditional family structure, typically comprising of a father (male parent), a mother (female parent) and their direct offspring. However, it's important to note that there are many different types of families and none is considered universally superior or normative. The concept of a nuclear family has evolved over time and varies across cultures and societies.

Human chromosome pair 10 refers to a group of genetic materials that are present in every cell of the human body. Chromosomes are thread-like structures that carry our genes and are located in the nucleus of most cells. They come in pairs, with one set inherited from each parent.

Chromosome pair 10 is one of the 22 autosomal chromosome pairs, meaning they contain genes that are not related to sex determination. Each member of chromosome pair 10 is a single, long DNA molecule that contains thousands of genes and other genetic material.

Chromosome pair 10 is responsible for carrying genetic information that influences various traits and functions in the human body. Some of the genes located on chromosome pair 10 are associated with certain medical conditions, such as hereditary breast and ovarian cancer syndrome, neurofibromatosis type 1, and Waardenburg syndrome type 2A.

It's important to note that while chromosomes carry genetic information, not all variations in the DNA sequence will result in a change in phenotype or function. Some variations may have no effect at all, while others may lead to changes in how proteins are made and function, potentially leading to disease or other health issues.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).

Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).

Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.

Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.

Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.

A quantitative trait is a phenotypic characteristic that can be measured and displays continuous variation, meaning it can take on any value within a range. Examples include height, blood pressure, or biochemical measurements like cholesterol levels. These traits are usually influenced by the combined effects of multiple genes (polygenic inheritance) as well as environmental factors.

Heritability, in the context of genetics, refers to the proportion of variation in a trait that can be attributed to genetic differences among individuals in a population. It is estimated using statistical methods and ranges from 0 to 1, with higher values indicating a greater contribution of genetics to the observed phenotypic variance.

Therefore, a heritable quantitative trait would be a phenotype that shows continuous variation, influenced by multiple genes and environmental factors, and for which a significant portion of the observed variation can be attributed to genetic differences among individuals in a population.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Human chromosome pair 3 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. Chromosomes are made up of DNA, which contains the instructions for the development and function of all living organisms.

Human chromosomes are numbered from 1 to 22, with an additional two sex chromosomes (X and Y) that determine biological sex. Chromosome pair 3 is one of the autosomal pairs, meaning it contains genes that are not related to sex determination. Each member of chromosome pair 3 is identical in size and shape and contains a single long DNA molecule that is coiled tightly around histone proteins to form a compact structure.

Chromosome pair 3 is associated with several genetic disorders, including Waardenburg syndrome, which affects pigmentation and hearing; Marfan syndrome, which affects the connective tissue; and some forms of retinoblastoma, a rare eye cancer that typically affects young children.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Human chromosome pair 13 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes carry genetic information in the form of genes, which are sequences of DNA that code for specific traits and functions. Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Chromosome pair 13 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y).

Chromosome pair 13 contains several important genes that are associated with various genetic disorders, such as cri-du-chat syndrome and Phelan-McDermid syndrome. Cri-du-chat syndrome is caused by a deletion of the short arm of chromosome 13 (13p), resulting in distinctive cat-like crying sounds in infants, developmental delays, and intellectual disabilities. Phelan-McDermid syndrome is caused by a deletion or mutation of the terminal end of the long arm of chromosome 13 (13q), leading to developmental delays, intellectual disability, absent or delayed speech, and autistic behaviors.

It's important to note that while some genetic disorders are associated with specific chromosomal abnormalities, many factors can contribute to the development and expression of these conditions, including environmental influences and interactions between multiple genes.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).

The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:

1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.

The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Human chromosome pair 11 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are located on the eleventh position in the standard karyotype, which is a visual representation of the 23 pairs of human chromosomes.

Chromosome 11 is one of the largest human chromosomes and contains an estimated 135 million base pairs. It contains approximately 1,400 genes that provide instructions for making proteins, as well as many non-coding RNA molecules that play a role in regulating gene expression.

Chromosome 11 is known to contain several important genes and genetic regions associated with various human diseases and conditions. For example, it contains the Wilms' tumor 1 (WT1) gene, which is associated with kidney cancer in children, and the neurofibromatosis type 1 (NF1) gene, which is associated with a genetic disorder that causes benign tumors to grow on nerves throughout the body. Additionally, chromosome 11 contains the region where the ABO blood group genes are located, which determine a person's blood type.

It's worth noting that human chromosomes come in pairs because they contain two copies of each gene, one inherited from the mother and one from the father. This redundancy allows for genetic diversity and provides a backup copy of essential genes, ensuring their proper function and maintaining the stability of the genome.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

"Adult children" is a term used to describe individuals who are typically adults in age, but who still have developmental or psychological dependencies on their parents or caregivers. This term is often used in the context of adult children of alcoholics or other dysfunctional families, where the adult child may exhibit behaviors such as:

* Difficulty setting boundaries
* Low self-esteem
* Fear of abandonment
* Difficulty with intimacy and commitment
* A tendency to assume responsibility for others' feelings and actions

These patterns often stem from childhood experiences in which the adult child took on a caretaking role or felt responsible for their parents' emotions. While "adult children" is not a formal medical term, it is widely used in psychology and social work to describe this population.

A cataract is a clouding of the natural lens in the eye that affects vision. This clouding can cause vision to become blurry, faded, or dim, making it difficult to see clearly. Cataracts are a common age-related condition, but they can also be caused by injury, disease, or medication use. In most cases, cataracts develop gradually over time and can be treated with surgery to remove the cloudy lens and replace it with an artificial one.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

The term "family" in a medical context often refers to a group of individuals who are related by blood, marriage, or adoption and who consider themselves to be a single household. This can include spouses, parents, children, siblings, grandparents, and other extended family members. In some cases, the term may also be used more broadly to refer to any close-knit group of people who provide emotional and social support for one another, regardless of their biological or legal relationship.

In healthcare settings, understanding a patient's family dynamics can be important for providing effective care. Family members may be involved in decision-making about medical treatments, providing care and support at home, and communicating with healthcare providers. Additionally, cultural beliefs and values within families can influence health behaviors and attitudes towards medical care, making it essential for healthcare professionals to take a culturally sensitive approach when working with patients and their families.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

A matched-pair analysis is a type of statistical analysis used in epidemiological or clinical research to reduce or control confounding and increase the power of a study. In this approach, pairs of subjects are created who are similar to each other with respect to certain covariates or potential confounders, such as age, sex, race, or disease severity. One member of the pair is then exposed to the factor of interest (e.g., a treatment or risk factor), while the other member is not. By comparing outcomes between the exposed and non-exposed members of each pair, researchers can better isolate the effects of the exposure from the influence of confounding variables.

This technique is particularly useful in observational studies where random assignment to exposure groups is not possible or ethical. However, it's important to note that matching on too many variables or selecting inappropriate matching criteria can actually reduce the generalizability and power of the study. Therefore, careful consideration should be given when designing a matched-pair analysis.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

I'm sorry for any confusion, but "siblings" is not a medical term. It is a term used in genealogy and sociology to refer to the brothers and sisters that someone has. Sibling relationships can have medical implications, such as when inherited genetic disorders are present in a family, but the term "siblings" itself does not have a specific medical definition.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Human chromosome pair 14 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of the pair contains a single very long DNA molecule that carries an identical set of genes and other genetic elements, totaling approximately 105 million base pairs. These chromosomes play a crucial role in the development, functioning, and reproduction of human beings.

Chromosome 14 is one of the autosomal chromosomes, meaning it is not involved in determining the sex of an individual. It contains around 800-1,000 genes that provide instructions for producing various proteins responsible for numerous cellular functions and processes. Some notable genes located on chromosome 14 include those associated with neurodevelopmental disorders, cancer susceptibility, and immune system regulation.

Human cells typically have 23 pairs of chromosomes, including 22 autosomal pairs (numbered 1-22) and one pair of sex chromosomes (XX for females or XY for males). Chromosome pair 14 is the eighth largest autosomal pair in terms of its total length.

It's important to note that genetic information on chromosome 14, like all human chromosomes, can vary between individuals due to genetic variations and mutations. These differences contribute to the unique characteristics and traits found among humans.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

"Likelihood functions" is a statistical concept that is used in medical research and other fields to estimate the probability of obtaining a given set of data, given a set of assumptions or parameters. In other words, it is a function that describes how likely it is to observe a particular outcome or result, based on a set of model parameters.

More formally, if we have a statistical model that depends on a set of parameters θ, and we observe some data x, then the likelihood function is defined as:

L(θ | x) = P(x | θ)

This means that the likelihood function describes the probability of observing the data x, given a particular value of the parameter vector θ. By convention, the likelihood function is often expressed as a function of the parameters, rather than the data, so we might instead write:

L(θ) = P(x | θ)

The likelihood function can be used to estimate the values of the model parameters that are most consistent with the observed data. This is typically done by finding the value of θ that maximizes the likelihood function, which is known as the maximum likelihood estimator (MLE). The MLE has many desirable statistical properties, including consistency, efficiency, and asymptotic normality.

In medical research, likelihood functions are often used in the context of Bayesian analysis, where they are combined with prior distributions over the model parameters to obtain posterior distributions that reflect both the observed data and prior knowledge or assumptions about the parameter values. This approach is particularly useful when there is uncertainty or ambiguity about the true value of the parameters, as it allows researchers to incorporate this uncertainty into their analyses in a principled way.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina - a light-sensitive tissue located at the back of the eye. The retina converts light into electrical signals which are then sent to the brain and interpreted as visual images.

In RP, the cells that detect light (rods and cones) degenerate more slowly than other cells in the retina, leading to a progressive loss of vision. Symptoms typically begin in childhood with night blindness (difficulty seeing in low light), followed by a gradual narrowing of the visual field (tunnel vision). Over time, this can lead to significant vision loss and even blindness.

The condition is usually inherited and there are several different genes that have been associated with RP. The diagnosis is typically made based on a combination of genetic testing, family history, and clinical examination. Currently, there is no cure for RP, but researchers are actively working to develop new treatments that may help slow or stop the progression of the disease.

I'm not aware of a medical definition for the term "Iceland." Iceland is actually a country in Northern Europe, located between the North Atlantic and Arctic Oceans. It is known for its dramatic landscape with volcanoes, geysers, hot springs, and lava fields.

If you have any medical or health-related question, I would be happy to help answer that for you.

I'm sorry for any confusion, but "Pakistan" is a country in South Asia and not a medical term or condition. If you have any medical questions or terms you would like defined, I would be happy to help!

"Genetic crosses" refer to the breeding of individuals with different genetic characteristics to produce offspring with specific combinations of traits. This process is commonly used in genetics research to study the inheritance patterns and function of specific genes.

There are several types of genetic crosses, including:

1. Monohybrid cross: A cross between two individuals that differ in the expression of a single gene or trait.
2. Dihybrid cross: A cross between two individuals that differ in the expression of two genes or traits.
3. Backcross: A cross between an individual from a hybrid population and one of its parental lines.
4. Testcross: A cross between an individual with unknown genotype and a homozygous recessive individual.
5. Reciprocal cross: A cross in which the male and female parents are reversed to determine if there is any effect of sex on the expression of the trait.

These genetic crosses help researchers to understand the mode of inheritance, linkage, recombination, and other genetic phenomena.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

Multifactorial inheritance is a type of genetic inheritance that involves the interaction of multiple genes (two or more) along with environmental factors in the development of a particular trait, disorder, or disease. Each gene can slightly increase or decrease the risk of developing the condition, and the combined effects of these genes, along with environmental influences, determine the ultimate outcome.

Examples of multifactorial inheritance include height, skin color, and many common diseases such as heart disease, diabetes, and mental disorders like schizophrenia and autism. These conditions tend to run in families but do not follow simple Mendelian patterns of inheritance (dominant or recessive). Instead, they show complex inheritance patterns that are influenced by multiple genetic and environmental factors.

It is important to note that having a family history of a multifactorial disorder does not guarantee that an individual will develop the condition. However, it does increase the likelihood, and the risk may be further modified by lifestyle choices, environmental exposures, and other health factors.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

The Founder Effect is a concept in population genetics that refers to the loss of genetic variation that occurs when a new colony is established by a small number of individuals from a larger population. This decrease in genetic diversity can lead to an increase in homozygosity, which can in turn result in a higher frequency of certain genetic disorders or traits within the founding population and its descendants. The Founder Effect is named after the "founding" members of the new colony who carry and pass on their particular set of genes to the next generations. It is one of the mechanisms that can lead to the formation of distinct populations or even new species over time.

Human chromosome pair 22 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosome pair 22 is one of the 22 autosomal pairs of human chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome 22 is the second smallest human chromosome, with each arm of the chromosome designated as p and q. The short arm is labeled "p," and the long arm is labeled "q."

Chromosome 22 contains several genes that are associated with various genetic disorders, including DiGeorge syndrome, velocardiofacial syndrome, and cat-eye syndrome, which result from deletions or duplications of specific regions on the chromosome. Additionally, chromosome 22 is the location of the NRXN1 gene, which has been associated with an increased risk for autism spectrum disorder (ASD) and schizophrenia when deleted or disrupted.

Understanding the genetic makeup of human chromosome pair 22 can provide valuable insights into human genetics, evolution, and disease susceptibility, as well as inform medical diagnoses, treatments, and research.

Mammalian chromosomes are thread-like structures that exist in the nucleus of mammalian cells, consisting of DNA, hist proteins, and RNA. They carry genetic information that is essential for the development and function of all living organisms. In mammals, each cell contains 23 pairs of chromosomes, for a total of 46 chromosomes, with one set inherited from the mother and the other from the father.

The chromosomes are typically visualized during cell division, where they condense and become visible under a microscope. Each chromosome is composed of two identical arms, separated by a constriction called the centromere. The short arm of the chromosome is labeled as "p," while the long arm is labeled as "q."

Mammalian chromosomes play a critical role in the transmission of genetic information from one generation to the next and are essential for maintaining the stability and integrity of the genome. Abnormalities in the number or structure of mammalian chromosomes can lead to various genetic disorders, including Down syndrome, Turner syndrome, and Klinefelter syndrome.

A Genome-Wide Association Study (GWAS) is an analytical approach used in genetic research to identify associations between genetic variants, typically Single Nucleotide Polymorphisms (SNPs), and specific traits or diseases across the entire genome. This method involves scanning the genomes of many individuals, usually thousands, to find genetic markers that occur more frequently in people with a particular disease or trait than in those without it.

The goal of a GWAS is to identify genetic loci (positions on chromosomes) associated with a trait or disease, which can help researchers understand the underlying genetic architecture and biological mechanisms contributing to the condition. It's important to note that while GWAS can identify associations between genetic variants and traits/diseases, these studies do not necessarily prove causation. Further functional validation studies are often required to confirm the role of identified genetic variants in the development or progression of a trait or disease.

Beta-crystallin B chain is a protein that forms part of the beta-crystallin complex, which is a major structural component of the vertebrate eye lens. The beta-crystallins are organized into two subgroups, beta-A and beta-B, based on their structural and genetic characteristics.

The beta-B crystallin proteins are encoded by four genes (CRYBB1, CRYBB2, CRYBB3, and CRYBB4) that are located in a cluster on chromosome 22 in humans. These proteins have a molecular weight of approximately 25 kDa and are composed of four distinct domains: an N-terminal domain, two Greek key motifs, and a C-terminal domain.

The beta-crystallin B chain proteins play important roles in maintaining the transparency and refractive properties of the eye lens. Mutations in these genes have been associated with various forms of cataracts, which are clouding of the eye lens that can lead to vision loss.

Inborn genetic diseases, also known as inherited genetic disorders, are conditions caused by abnormalities in an individual's DNA that are present at conception. These abnormalities can include mutations, deletions, or rearrangements of genes or chromosomes. In many cases, these genetic changes are inherited from one or both parents and may be passed down through families.

Inborn genetic diseases can affect any part of the body and can cause a wide range of symptoms, which can vary in severity depending on the specific disorder. Some genetic disorders are caused by mutations in a single gene, while others are caused by changes in multiple genes or chromosomes. In some cases, environmental factors may also contribute to the development of these conditions.

Examples of inborn genetic diseases include cystic fibrosis, sickle cell anemia, Huntington's disease, Duchenne muscular dystrophy, and Down syndrome. These conditions can have significant impacts on an individual's health and quality of life, and many require ongoing medical management and treatment. In some cases, genetic counseling and testing may be recommended for individuals with a family history of a particular genetic disorder to help them make informed decisions about their reproductive options.

Reproducibility of results in a medical context refers to the ability to obtain consistent and comparable findings when a particular experiment or study is repeated, either by the same researcher or by different researchers, following the same experimental protocol. It is an essential principle in scientific research that helps to ensure the validity and reliability of research findings.

In medical research, reproducibility of results is crucial for establishing the effectiveness and safety of new treatments, interventions, or diagnostic tools. It involves conducting well-designed studies with adequate sample sizes, appropriate statistical analyses, and transparent reporting of methods and findings to allow other researchers to replicate the study and confirm or refute the results.

The lack of reproducibility in medical research has become a significant concern in recent years, as several high-profile studies have failed to produce consistent findings when replicated by other researchers. This has led to increased scrutiny of research practices and a call for greater transparency, rigor, and standardization in the conduct and reporting of medical research.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

Sensorineural hearing loss (SNHL) is a type of hearing impairment that occurs due to damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. It can be caused by various factors such as aging, exposure to loud noises, genetics, certain medical conditions (like diabetes and heart disease), and ototoxic medications.

SNHL affects the ability of the hair cells in the cochlea to convert sound waves into electrical signals that are sent to the brain via the auditory nerve. As a result, sounds may be perceived as muffled, faint, or distorted, making it difficult to understand speech, especially in noisy environments.

SNHL is typically permanent and cannot be corrected with medication or surgery, but hearing aids or cochlear implants can help improve communication and quality of life for those affected.

Hypotrichosis is a medical term that refers to a condition characterized by an abnormal lack or sparseness of hair growth. This can apply to the eyebrows, eyelashes, or scalp hair. It's important to note that this is not a complete loss of hair, but rather a significant reduction in hair density. The onset and severity can vary greatly, and it can be inherited or acquired later in life due to various factors such as diseases, burns, or certain medications.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

I'm sorry for any confusion, but "Finland" is not a medical term. It is a country located in Northern Europe, known officially as the Republic of Finland. If you have any questions about medical terminology or health-related topics, I would be happy to try and help answer those for you.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Satellite DNA is a type of DNA sequence that is repeated in a tandem arrangement in the genome. These repeats are usually relatively short, ranging from 2 to 10 base pairs, and are often present in thousands to millions of copies arranged in head-to-tail fashion. Satellite DNA can be found in centromeric and pericentromeric regions of chromosomes, as well as at telomeres and other heterochromatic regions of the genome.

Due to their repetitive nature, satellite DNAs are often excluded from the main part of the genome during DNA sequencing projects, and therefore have been referred to as "satellite" DNA. However, recent studies suggest that satellite DNA may play important roles in chromosome structure, function, and evolution.

It's worth noting that not all repetitive DNA sequences are considered satellite DNA. For example, microsatellites and minisatellites are also repetitive DNA sequences, but they have different repeat lengths and arrangements than satellite DNA.

Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.

There are numerous types of congenital hand deformities, some of which include:

1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.

Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, primarily affecting the peripheral nerves. These are the nerves that transmit signals between the brain and spinal cord to the rest of the body. CMT affects both motor and sensory nerves, leading to muscle weakness and atrophy, as well as numbness or tingling in the hands and feet.

The disease is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is characterized by its progressive nature, meaning symptoms typically worsen over time, although the rate of progression can vary significantly among individuals.

There are several types of CMT, classified based on their genetic causes and patterns of inheritance. The two most common forms are CMT1 and CMT2:

1. CMT1: This form is caused by mutations in the genes responsible for the myelin sheath, which insulates peripheral nerves and allows for efficient signal transmission. As a result, demyelination occurs, slowing down nerve impulses and causing muscle weakness, particularly in the lower limbs. Symptoms usually begin in childhood or adolescence and include foot drop, high arches, and hammertoes.
2. CMT2: This form is caused by mutations in the genes responsible for the axons, the nerve fibers that transmit signals within peripheral nerves. As a result, axonal degeneration occurs, leading to muscle weakness and atrophy. Symptoms usually begin in early adulthood and progress more slowly than CMT1. They primarily affect the lower limbs but can also involve the hands and arms.

Diagnosis of CMT typically involves a combination of clinical evaluation, family history, nerve conduction studies, and genetic testing. While there is no cure for CMT, treatment focuses on managing symptoms and maintaining mobility and function through physical therapy, bracing, orthopedic surgery, and pain management.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

I am not aware of a widely accepted medical definition for the term "software," as it is more commonly used in the context of computer science and technology. Software refers to programs, data, and instructions that are used by computers to perform various tasks. It does not have direct relevance to medical fields such as anatomy, physiology, or clinical practice. If you have any questions related to medicine or healthcare, I would be happy to try to help with those instead!

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

A genetic locus (plural: loci) is a specific location on a chromosome where a particular gene or DNA sequence is found. It is the precise position where a specific genetic element, such as a gene or marker, is located on a chromsomere. This location is defined in terms of its relationship to other genetic markers and features on the same chromosome. Genetic loci can be used in linkage and association studies to identify the inheritance patterns and potential relationships between genes and various traits or diseases.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

The term "Arabs" is a cultural and linguistic designation, rather than a racial or genetic one. It refers to individuals who speak Arabic as their native language and share a common cultural and historical heritage that is rooted in the Arabian Peninsula. The Arabic language and culture have spread throughout North Africa, the Middle East, and other parts of the world through conquest, trade, and migration over many centuries.

It's important to note that there is significant genetic diversity within the Arab population, just as there is in any large and geographically dispersed group of people. Therefore, it would not be accurate or appropriate to use the term "Arabs" to make assumptions about an individual's genetic background or ancestry.

In medical contexts, it is more appropriate to use specific geographic or ethnic designations (such as "Saudi Arabian," "Lebanese," "North African," etc.) rather than the broad cultural label of "Arab." This can help ensure greater accuracy and precision in describing a patient's background and health risks.

Hereditary eye diseases refer to conditions that affect the eyes and are passed down from parents to their offspring through genetics. These diseases are caused by mutations or changes in an individual's DNA that are inherited from their parents. The mutations can occur in any of the genes associated with eye development, function, or health.

There are many different types of hereditary eye diseases, some of which include:

1. Retinitis Pigmentosa - a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina.
2. Macular Degeneration - a progressive disease that damages the central portion of the retina, impairing vision.
3. Glaucoma - a group of eye conditions that damage the optic nerve, often caused by an increase in pressure inside the eye.
4. Cataracts - clouding of the lens inside the eye, which can lead to blurry vision and blindness.
5. Keratoconus - a progressive eye disease that causes the cornea to thin and bulge outward into a cone shape.
6. Color Blindness - a condition where an individual has difficulty distinguishing between certain colors.
7. Optic Neuropathy - damage to the optic nerve, which can result in vision loss.

The symptoms and severity of hereditary eye diseases can vary widely depending on the specific condition and the individual's genetic makeup. Some conditions may be present at birth or develop in early childhood, while others may not appear until later in life. Treatment options for these conditions may include medication, surgery, or lifestyle changes, and are often most effective when started early.

A chromosome is a thread-like structure that contains genetic material, made up of DNA and proteins, in the nucleus of a cell. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each cell of the body, with the exception of the sperm and egg cells which contain only 23 chromosomes.

The X chromosome is one of the two sex-determining chromosomes in humans. Females typically have two X chromosomes (XX), while males have one X and one Y chromosome (XY). The X chromosome contains hundreds of genes that are responsible for various functions in the body, including some related to sexual development and reproduction.

Humans inherit one X chromosome from their mother and either an X or a Y chromosome from their father. In females, one of the two X chromosomes is randomly inactivated during embryonic development, resulting in each cell having only one active X chromosome. This process, known as X-inactivation, helps to ensure that females have roughly equal levels of gene expression from the X chromosome, despite having two copies.

Abnormalities in the number or structure of the X chromosome can lead to various genetic disorders, such as Turner syndrome (X0), Klinefelter syndrome (XXY), and fragile X syndrome (an X-linked disorder caused by a mutation in the FMR1 gene).

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Finland score listed first, score column indicates score after each Lod goal. Klubi 04 Kakkonen: 2011 HJK Helsinki ... "Lod, Robin". National Football Teams. Retrieved 27 August 2019. "R. Lod". Soccerway. Retrieved 27 August 2019. "Robin Lod". ... Robin Lod scored in his debut match in Spain, Petteri Forsell scored twice in the Polish league] (in Finnish). Yle. 27 August ... Lod scored his first goal on his senior debut for HJK on 22 October 2011 in a 4−1 home win against MYPA. During the 2012 season ...
Lathrop GM, Lalouel JM (1984). "Easy calculations of lod scores and genetic risks on small computers". Am J Hum Genet. 36 (2): ... Kong A, Cox NJ (1997). "Allele-sharing models: LOD scores and accurate linkage tests". Am J Hum Genet. 61 (5): 1179-1188. doi: ... Sobel E, Lange K (1996). "Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing ...
... see ΔT Limit of detection LOD score, logarithm of odds Loss on drying Level of Development or Level of Detail, in Building ... Lod is a city in Israel. Lod, LOD and LoD may also refer to: Legal Operations Detachment; see United States Army Reserve Legal ... England Lod airport, a former name of Ben Gurion Airport, Israel Lodi, Lombardy Province of Lodi, in Italy Lod (crater), a ... a measurement of a ship over the deck from forward deck to the transom LOD, the length of a mean solar day in a uniform time ...
The test statistic LOD score linearly increases as the increase in population size. The larger of the QTL effect, the greater ... the corresponding LOD score increases. When population size is greater than 200, the position estimation of ICIM for QTL ...
If one block of homozygosity is a result of a very non-diverse region of the genome, the LOD score will be very low). Tools for ... This can be accomplished by plotting a cumulative LOD score alongside the overlaid blocks of homozygosity. By taking into ...
The study confirmed the Xq28 linkage to homosexuality by two-point and multipoint (MERLIN) LOD score mapping. Significant ...
On 19 February 2016, he scored his first goal in a 3-2 victory against Bnei Lod. On 6 July, Mohamed signed a contract with ... On 17 March 2017, he scored his first goal for the club in a 4-0 win against Hapoel Katamon Jerusalem. Mohamed finished the ... he made his debut for the club in a 4-1 loss to Bnei Lod. ...
The data strongly replicated Hamer's Xq28 findings as determined by both two-point and multipoint (MERLIN) LOD score mapping. ...
... a LOD score for each estimate The estimate with the highest LOD score will be considered the best estimate The LOD score is ... Positive LOD scores favour the presence of linkage, whereas negative LOD scores indicate that linkage is less likely. ... a LOD score less than −2.0 is considered evidence to exclude linkage. Although it is very unlikely that a LOD score of 3 would ... the mathematical properties of the test allow data from a number of pedigrees to be combined by summing their LOD scores. A LOD ...
By analyzing DNA alleles can be identified as being associated with disease states, such as in calculation of LOD scores. ...
His prolific scoring at the lower levels of the Israeli League, prompted his former team, Hapoel Bnei Lod, now in Liga Artzit ... In the 2003-04 season, Alyan joined Bnei Lod and helped them win Liga Bet by scoring 24 goals, a team high. The next season, he ... He scored 15 goals in his first season and finished as the West Bank Premier League top scorer. In his second season, he again ... Scores and results list the Palestine's goal tally first. Hilal Al-Quds Champion West Bank League 2011-12 Champion Palestine ...
... the traditional lod score model), weakly model based (variance components methods), or model free. Variance component methods ...
... with over 300,000 single-nucleotide polymorphism markers confirmed the Xq28 linkage by two-point and multipoint LOD score ...
The final was played at the Ramat Gan Stadium on 9 December 2014, which saw Hapoel Bnei Lod defeat Bnei Yehuda with a score of ... Lod v Beitar Tel Aviv Ramla Ironi Tiberias v Hapoel Bnei Lod Maccabi Kiryat Gat v Bnei Yehuda Bnei Yehuda v Hapoel Bnei Lod ... Superior goal difference Higher number of victories achieved Higher number of goals scored Higher number of points obtained in ... 4th goals scored; 5th head-to-head; 6th decision match (A) Advanced to the quarterfinals Source: football.org.il (in Hebrew) ...
He played forty-one games and scored eight. In 2018, Rose joined Liga Leumit side Hapoel Bnei Lod. He made just three ... who he scored against in a 1-2 defeat on 5 October. Rose returned to Argentina with former team Los Andes, now of Primera B ... Hapoel Bnei Lod F.C. players, All stub articles, Argentine football midfielder, 1990s birth stubs). ...
LOD score long arm In condensed chromosomes where the positioning of the centromere creates two segments or "arms" of unequal ...
... linkage analysis of the combined genotyping data for three families across the NFJS/DPR candidate region generated an LOD score ... of 6.2 at marker D17S800, with a recombination score of 0. Further analysis revealed that NFJS may be caused by an identical ...
... karyotype knockout leukemia List of human genetic disorders locus LOD score lymphocyte malformation Gene mapping marker ...
Early analysis relied on statistical interpretation through processes such as LOD (logarithm of odds) scores of pedigrees and ... Logarithm of odds (LOD) is a statistical technique used to estimate the probability of gene linkage between traits. LOD is ...
... and Pablo Fernández scored the two goals. On 23 July, the club signed Finnish international winger Robin Lod for two seasons. ... and Real Sporting defeated Gimnàstic by 2-0 with goals of Hernán Santana and Robin Lod, both players scoring for the first time ... Robin Lod, called up for playing the UEFA Nations League with Finland, missed the game. Rubén Baraja and the rest of the ... "Robin Lod ya está en Gijon para fichar por el Sporting". La Voz de Asturias (in European Spanish). 2018-07-23. Retrieved 2018- ...
... with a maximum lod score, for D16S3133 of 6.76 at a recombination fraction of 0. The disease gene has been mapped at chromosome ...
Using the LOD score which describes the likelihood that two genes are near each other on a chromosome, and thus will be ... The area with the highest LOD score in the genome of an individual with auditory-visual synesthesia has been shown to be linked ...
In interval mapping, each locus is considered one at a time and the logarithm of the odds ratio (LOD score) is calculated for ...
... lod score MeSH G13.695.450 - genetic markers MeSH G13.695.650 - penetrance MeSH G13.700.131 - aneuploidy MeSH G13.700.131.500 ...
Linear tetrad Linkage Linkage analysis Linkage equilibrium Linkage group Linkage map Linking number Locus Lod score Lod score ...
... "a major schizophrenia susceptibility locus on chromosome 1q21-22 with a multipoint lod score of 6.50 (p. ...
LOD score - lymphocyte - lysine-tRNA(Pyl) ligase - M13 phage - m7G(5')pppN diphosphatase - malformation - maltose-transporting ...
He moved to Israel in 2014, playing first for Hapoel Bnei Lod and then for Maccabi Yavne in the 2014-15 Liga Leumit. He scored ... Hapoel Bnei Lod Toto Cup: 2014-15 "KHALLIL: "Il y a beaucoup de manière différente de recevoir la gloire dans ce monde"". ... He played seven games in the league, and scored a goal in six games in the 2012 AFC Cup. In summer 2012, Lambin signed for ... Lambin signed for Belgian First Division B side Patro Eisden in 2015, where he scored six goals in 24 games, before joining ...
On 29 May 2009 he made his debut at the first team 2-4 loss to Hapoel Bnei Lod. During the 2012/13 scoring 8 league goals was ... Hapoel Bnei Lod F.C. players, Hapoel Iksal F.C. players, Hapoel Rishon LeZion F.C. players, Liga Leumit players, Israeli ...
On August 27 he made his debut as part of the league in a 2-0 victory over Hapoel Bnei Lod at the Lod Municipal Stadium. In ... In the 2015-16 season he made his first break, scoring 34 league appearances and scoring seven goals. On July 20, 2016, in the ... with 32 appearances in the league this season and scoring one goal. ... this season, Levi made 34 league appearances and scored 11 goals. On June 4, 2019, the 2019-20 season, Levi signed with Hapoel ...
Finland score listed first, score column indicates score after each Lod goal. Klubi 04 Kakkonen: 2011 HJK Helsinki ... "Lod, Robin". National Football Teams. Retrieved 27 August 2019. "R. Lod". Soccerway. Retrieved 27 August 2019. "Robin Lod". ... Robin Lod scored in his debut match in Spain, Petteri Forsell scored twice in the Polish league] (in Finnish). Yle. 27 August ... Lod scored his first goal on his senior debut for HJK on 22 October 2011 in a 4−1 home win against MYPA. During the 2012 season ...
LOD score 2.03 at 67 cM) and to FVC on chromosome 1 (LOD score 2.05 at 13 cM). The highest LOD score for FEV(1) in the initial ... LOD score 4.12 at 222 cM). Suggestive evidence was found for linkage to FEV(1)/FVC on chromosomes 1 (LOD score 1.92 at 120 cM) ... LOD score 2.43 at 37 cM) to this region was demonstrated. These observations provide both significant evidence for an early- ...
Lod Score * Models, Genetic * Research Design / standards * Statistics as Topic ...
LOD Score. An LOD (short for "logarithm of the odds") score is a statistical estimate of the relative probability that two loci ... Polygenic Risk Score (PRS). A polygenic risk score (abbreviated PRS) uses genomic information alone to assess a persons ... A genotype is a scoring of the type of variant present at a given location (i.e., a locus) in the genome. It can be represented ...
LOD Score:. LRS: 10.8. P Value:. 0.00509. Variance:. 11.0. Position. Rat Assembly. Chr. Position (strand). Source. JBrowse. ...
Formal linkage analysis yielded an LOD score greater than 3. A follow-up study described the clinical details of this family in ... Alzforum applies this criterion when the variants PHRED-scaled CADD score is greater than or equal to 20. ... gave it a high deleteriousness score above 20 (CADD v.1.6, Sep 2021). ...
Multipoint linkage analysis yielded a maximal log of the odds (LOD) score of 13.22. Haplotype analysis identified a number of ... linked to chromosome 12q with a maximum lod score of 15) revealed a severe impairment in insulin secretion, which was present ...
Of the 1425 markers, 372 were mapped on 21 linkage groups involving 14 chromosomes with 3.0 LOD scores. Composite interval ...
2-point LOD scores of 1.62 and 1.15 at θ = 0 for PKRP344 (Table 1). Although these LOD scores are less than a 2-point LOD score ... Maximum two-point LOD scores of 3.21, 6.95, and 5.95 at θ = 0 were obtained with markers D8S1737, D8S509, and D8S2332, ... Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet. 1984; 36:460-5. [PMID: 6585139] ... Alleles for markers D8S1737, D8S509, and D8S2332 yielded 2-point LOD scores of 2.54, 2.51, and 2.51 at θ = 0 and 1.42, 2.13, ...
The top-left plot is a "heat map" of the LOD scores for each time point at each genomic position. LOD scores are also colored ... The curves at the top are the same LOD curves we saw before. The LOD score is a measure of association between genotype and ... We know we should not rely solely on summary statistics (like the LOD score), but if it takes an extra step to plot the ... We consider only those (position, time) pairs with LOD > 1.. When you hover over a point in the top-left plot, the LOD curves ...
... which is confirmed statistically by calculating the LOD scores. A LOD score value of greater than 3 indicates linkage of that ... In informative families affected with a disease, linkage can be confirmed by LOD score and haplotype analysis. Segregation of a ...
Multipoint linkage analysis gave a maximum LOD score of 3.14 at D22S683. These findings were consistent with linkage to ...
The maximum multipoint lod score of 3.28 was obtained in only one interval, between markers D6S1699 and D6S314. On the whole, a ... The SLINK program was used to calculate the potential lod score.12 Two point linkage analysis was carried out using the MLINK ... Two point lod scores for markers in the candidate region (6q22.31- 6q24.1). Fluorescent markers are underlined. The homozygous ... Significant positive lod score values were obtained in region 6q22.31-q24.1 for three consecutive fluorescent markers: D6S287 ( ...
Der Einfluß fehlspezifizierter Modellparameter auf Lod-Score und Rekombinationsfrequenz am Beispiel einer Familienstudie zu ... VASc score, underuse of oral anticoagulation, and implications for preventive measures. Eur J Neurol 20:117-23. Ulrich CM, ...
A Rasch model has been used to develop a unidimensional sensitivity score representing multiple correlated measures of nicotine ... A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2.7 on chromosome ... A maximal NPL LOD score of 3.15, suggestive of significant linkage, was identified at chr6q26 for nicotine withdrawal ... Evaluation of 18 OPRM1 SNPs via the family-based association test with the nicotine withdrawal sensitivity score identified ...
... and heterogeneity LOD scores (HLOD) [32] under dominant or recessive models and NPLOD scores were calculated. LOD score for ... LOD score values and information content. LOD score values (top part of each panel) and information content (bottom part of ... LOD scores greater than 1 for the whole family set (in this case, 16 families), or linkage peak with a parametric LOD score ... Table 4 Comparative LOD scores in linkage families using SNP-GWS and STR-GWS data both with and without high-density STRs data ...
... which yielded a LOD score of 2.91 (102 cM), and somewhat by ST, which gave a LOD score of 1.18 at 103 cM. However, there was no ... Interestingly, the combined scores yielded a LOD score of 1.69 on chromosome 18q (at 63 cM), which overlaps with the DYX6 locus ... The major contribution of the 4q22 locus was obtained for the KMT (LOD 2.91). Interestingly, a positive LOD score of 1.69 was ... with the combined scores. The highest linkage peak for SP was a LOD score of 1.67 at 92 cM on chromosome 10. ...
It is possible to reorder loci in single RI sets to obtain subset-specific improvements in LOD score, but this will introduce ... This UTM column can be used to construct whole-genome LOD score plots. Opening this GIF file in Photoshop requires ... All of these reassignments are provisional, particularly those with LOD scores less than 10. In several cases, (e.g., D10Nds10 ... Markers were frequently reordered over short distances to maximize linkage LOD scores using the full BXN set. ...
Personalize your scores and news. Weve got you started with local teams!Sign In ... Robin Lod. 0. 0. 3. 2. 2. Emanuel Reynoso. 0. 0. 2. 3. 4. ...
The horizontal line above the y axis represents a significant LOD score of 0.05 (as determined by permuting the trait values). ... Our scientists have performed scores of QTL crosses and genome scans, and they have identified many of the genes that underlie ...
LOD score 2.3, nominal p = 0.0006). In all three studies, the effect of the 18p region was strongest in the obese subpopulation ... Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score-the CoLaus Study. Diabetologia, 52: ... 2009) constructed an additive genetic score using the most replicated SNPs within 15 T2DM susceptibility genes and reported ... that the weighted 15 SNP-based genetic score provides additional information over clinical predictors of prevalent T2DM. ...
A maximal Lod-score of 4.20 was obtained at D7S471 and D7S501. Fine mapping with additional markers defined a candidate region ... Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. Die Feinkartie-rung mit zusätzlichen Markern ... A maximal Lod-score of 4.20 was obtained at D7S471 and D7S501. Fine mapping with additional markers defined a candidate region ... Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. Die Feinkartie-rung mit zusätzlichen Markern ...
Multipoint analysis based on only the affected individuals gave a maximum LOD score of 4.78, with an approximate 2-LOD support ... The maximum two-point LOD score based on only the affected individuals was 2.21, at recombination fraction 0, at marker D7S2195 ... showed a maximum two-point LOD score of 4.05 at marker D7S500. ...
... score exceeding the critical LOD for 95% confidence can be assigned parentage with 95% confidence40. The estimated LOD value ... Then in our parentage analysis with real data, the most likely candidate parent with a LOD (logarithm of the odds) ... Adrian, A., Jörg, R. & Thomas, L. Improved scoring of functional groups from gene expression data by decorrelating GO graph ...
... pedigrees for total wake time produced a single LOD score peak on chromosome 9. b, Direct sequencing of the exon 12/13 boundary ...
Linkage analyses of 6 multiplex MSA families revealed several loci showing positive heterogeneity lod (HLOD) scores. Whole- ...
lod-score-cutoff. The VQSLOD score below which to start filtering. --showHidden. false. display hidden arguments. ... Apply a score cutoff to filter variants based on a recalibration table This tool performs the second pass in a two-stage ... The result is a VCF file in which variants have been assigned a score and filter status. ... Apply a score cutoff to filter variants based on a recalibration table ...
Seven SSTRPs showed lod scores , 1.00 at theta values between 0.10-0.20. The members of an additional 18 families were ... Increasing peak LOD scores were observed in both the single point and multipoint analyses for Mood Disorder phenotypes whose ... The highest maximum LOD score observed, 8.19 (genome-wide adjusted P ,, 0.0001), occurred for Recurrent Major Depressive ... The region between the markers that yielded the peak LOD score includes the CREB1 gene, which encodes a cAMP-responsive element ...
Model-based linkage analysis is based on a likelihood ratio, the logarithm of which is called a LOD score. This is not the ...
  • In the initial genomewide scan, significant evidence for linkage to FEV(1)/FVC was demonstrated on chromosome 2q (LOD score 4.12 at 222 cM). (nih.gov)
  • Suggestive evidence was found for linkage to FEV(1)/FVC on chromosomes 1 (LOD score 1.92 at 120 cM) and 17 (LOD score 2.03 at 67 cM) and to FVC on chromosome 1 (LOD score 2.05 at 13 cM). (nih.gov)
  • The highest LOD score for FEV(1) in the initial genomewide scan was 1.53, on chromosome 12, at 36 cM. (nih.gov)
  • After inclusion of 12 additional STR markers on chromosome 12p, which had been previously genotyped in this population, suggestive evidence for linkage of FEV(1) (LOD score 2.43 at 37 cM) to this region was demonstrated. (nih.gov)
  • Positive lod score values were obtained for chromosome 6q22.31-q24.1, with evidence of three homozygous intervals. (bmj.com)
  • A previous autosome-wide screen identified a nonparametric linkage (NPL) log-likelihood ratio (LOD) score of 2.7 on chromosome 6q26 for the sum of nine withdrawal symptoms. (sri.com)
  • Significant evidence of linkage was obtained on chromosome 4q22 (LOD 3.33) and suggestive evidence of linkage at 8q13-21 (LOD 2.29) with the combined music test scores, using variance component linkage analyses. (bmj.com)
  • The maximum two-point LOD score based on only the affected individuals was 2.21, at recombination fraction 0, at marker D7S2195 on chromosome 7q. (duke.edu)
  • A region of homozygosity harboring the neonatal diabetes disease gene on chromosome 10p12.1-p13 was identified (multipoint logarithm of odds score 3.25). (diabetesjournals.org)
  • A genome-wide linkage analysis did not indicate or exclude linkage to the region on chromosome 12 to which CNA1 has been previously mapped, and did not provide a single or multipoint LOD score greater than 2.0 for any of the 400 microsatellite markers. (llu.edu)
  • Foremost among these was the detection of very strong evidence for linkage of forearm BMD to a region on chromosome 4p (multipoint lod score = 4.3). (umaryland.edu)
  • Positional candidates in this region of chromosome 6 were analyzed with respect to a possible role in carcinogenesis and a role in inflammatory response using a new epigenetic gene scoring tool (Myeloid Inflammation Score). (jax.org)
  • Robin Lod maalasi liigadebyytissään" (in Finnish). (wikipedia.org)
  • Minnesota United midfielder Robin Lod (17) controls the ball away from Columbus Crew midfielder Artur (8) during the soccer match between the Columbus Crew and Minnesota United on July 28, 2020, at ESPN Wide World of Sports Complex in Orlando, FL. (fox9.com)
  • The Loons took a 1-0 lead in the 17th minute as Robin Lod was in the right place at the right time after a deflection from Jose Aja on a corner kick. (fox9.com)
  • Formal linkage analysis yielded an LOD score greater than 3. (alzforum.org)
  • Of the 1425 markers, 372 were mapped on 21 linkage groups involving 14 chromosomes with 3.0 LOD scores. (usda.gov)
  • A maximal NPL LOD score of 3.15, suggestive of significant linkage, was identified at chr6q26 for nicotine withdrawal sensitivity. (sri.com)
  • An increased risk of relapse, suggestive linkage at chr6q26, and nominally significant association with multiple OPRM1 SNPs were found with Rasch-modeled nicotine withdrawal sensitivity scores in a multiplex smoking pedigree sample. (sri.com)
  • Linkage analyses of 6 multiplex MSA families revealed several loci showing positive heterogeneity lod (HLOD) scores. (jnss.org)
  • No variations in sequence were observed in the other 2 families, and negative lod scores excluded linkage to the PTPN11 locus, showing that LEOPARD syndrome is genetically heterogeneous. (medscape.com)
  • Linkage to multiple 1q24-25 markers was strongly rejected for the sample as a whole (lod scores at theta = 0 ranged from -30.83 to -18.42). (elsevierpure.com)
  • The maximum multipoint lod score of 3.28 was obtained in only one interval, between markers D6S1699 and D6S314. (bmj.com)
  • Two-point logarithm of odds (LOD) scores were calculated, and all coding exons and exon-intron boundaries of RP1 were sequenced to identify the causal mutation. (molvis.org)
  • LOD stands for logarithm of the odds (to the base 10). (definithing.com)
  • Multipoint logarithm of odds (LOD) scores were calculated using parametric and nonparametric methods. (lu.se)
  • The heterogeneity LOD (HLOD) at the 6q, 2p and 14q loci in all families was 3.27, 1.66 and 1.24, respectively. (lu.se)
  • The horizontal line above the y axis represents a significant LOD score of 0.05 (as determined by permuting the trait values). (jax.org)
  • Lod made his international debut for Finland in October 2013, at the age of 20 and has since had over 60 caps, including appearing in 2018 and 2022 FIFA World Cup qualifications. (wikipedia.org)
  • On May 22 2022, with a goal in the 20th minute against Dallas FC, Lod scored his 22nd goal for Minnesota United in MLS league play and thus becoming Minnesota United's all-time leading scorer during its history in Major League Soccer. (wikipedia.org)
  • On 29 July 2022, Lod extended his contract with The Loons, signing a new three-year deal with a club option for a further year. (wikipedia.org)
  • Multipoint analysis based on only the affected individuals gave a maximum LOD score of 4.78, with an approximate 2-LOD support interval from marker D7S512 to marker D7S684. (duke.edu)
  • The major contribution of the 4q22 locus was obtained for the KMT (LOD 2.91). (bmj.com)
  • On 10 March 2018, Lod struck a superb late equaliser to salvage a vital point for Panathinaikos against an impressive Asteras Tripolis at the Apostolos Nikolaidis stadium. (wikipedia.org)
  • Former Manchester United and Real Madrid forward Chicharito opened the scoring, sliding home in the 47th minute with Galaxy appearing destined to claim all three points before a 90th-minute equaliser from Janio Bikel. (sportsmax.tv)
  • Jakob Glesnes scored a sensational stoppage-time equaliser as Philadelphia Union came from two goals down to secure a 2-2 draw with Atlanta United on Sunday. (sportsmax.tv)
  • the CADD-PHRED tool, which integrates diverse information, gave it a high deleteriousness score above 20 ( CADD v.1.6 , Sep 2021). (alzforum.org)
  • Combined analysis of additional members of this family (11 affected individuals) and of two unrelated families (one with 2 affected individuals and the other with 3 affected individuals), with 20 markers on 7q, showed a maximum two-point LOD score of 4.05 at marker D7S500. (duke.edu)
  • The LOD score is a measure of association between genotype and phenotype. (wisc.edu)
  • Ein maximaler LOD-Score von 4,20 wurde für die Marker D7S471 und D7S501 erzielt. (uni-wuerzburg.de)
  • When gender was used as a covariate, a LOD score of 5.4 was computed with the peak marker being positioned at rs13478727, 43.8 Mbp. (jax.org)
  • Mean T-scores in depressed and non-depressed individuals were compared using multiple linear regression models, adjusting for age, sex, race/ethnicity, disease activity, damage, body mass index (BMI), and household income. (cdc.gov)
  • In multivariable analyses simultaneously considering education, income, and health literacy, LHL was associated with significantly worse scores on all PROs except disease damage. (cdc.gov)
  • CONCLUSIONS: We found significantly worse PRO scores among individuals with LHL, even after controlling for disease activity and damage. (cdc.gov)
  • Interestingly, a positive LOD score of 1.69 was shown at 18q, a region previously linked to dyslexia (DYX6) using combined music test scores. (bmj.com)
  • On 28 May 2017, he scored in a 1-0 win against Panionios at Leoforos Stadium. (wikipedia.org)
  • A Rasch model has been used to develop a unidimensional sensitivity score representing multiple correlated measures of nicotine withdrawal. (sri.com)
  • On July 23, 2018, Lod signed with Segunda División team Sporting de Gijon. (wikipedia.org)
  • We've worked so hard, today was my turn to score a goal but more importantly, we went through as a team," Lod said. (fox9.com)
  • On July 16, 2019, Lod signed with MLS side Minnesota United for a transfer fee of around $680,000. (wikipedia.org)
  • Lod scored his first goal on his senior debut for HJK on 22 October 2011 in a 4−1 home win against MYPA. (wikipedia.org)
  • Three days later, another goal by Lod helped his club to secure a 3-2 away win against rivals PAOK on the last matchday of the 2016-17 Playoffs depriving PAOK of the possibility to participate in the UEFA Champions League third qualifying round. (wikipedia.org)
  • He made his debut appearance and also scored his first goal for Gijon on 26 August 2018 in a match against Gimnàstic de Tarragona. (wikipedia.org)
  • On 7 October 2016, Lod scored his first international goal in a 2018 FIFA World Cup preliminary game by giving the lead to Finland before they lost 3-2 in the very last minute against Iceland. (wikipedia.org)
  • Finland score listed first, score column indicates score after each Lod goal. (wikipedia.org)
  • Jamiro Monteiro scored the only goal of the game as Philadelphia kept up their good form with a 1-0 victory over Columbus Crew. (sportsmax.tv)
  • One family contributed suggestive LOD scores (LOD 2.63 to 3.03, dominant model) at all these regions, without consistent evidence of a tumour suppressor gene. (lu.se)
  • This tool performs the second pass in a two-stage process called Variant Quality Score Recalibration (VQSR). (broadinstitute.org)
  • A flexible tool for many situations, LOD/CCE experience needs development. (trustradius.com)
  • There would be another late twist, when the Galaxy's Efrain Alvarez scored in the third minute of stoppage - his stunning strike finding the back of the net after hopeful ball into the box. (sportsmax.tv)
  • compared with those without major depression, depressed individuals scored more than 10 points (1 SD) worse on Fatigue, Sleep Impairment, Negative Psychosocial Impact of Illness, Satisfaction in Discretionary Social Activities, and Satisfaction in Social Roles. (cdc.gov)
  • CONCLUSION: In individuals with SLE, major depression is associated with markedly worse PROMIS scores in physical, mental, and social domains. (cdc.gov)
  • The first pass consists of building a model that describes how variant annotation values co-vary with the truthfulness of variant calls in a training set, and then scoring all input variants according to the model. (broadinstitute.org)
  • When you hover over a point in the top-left plot, the LOD curves for the corresponding time are shown below, and the phenotype averages and estimated QTL effect (across time) for the corresponding genomic position are shown to the right. (wisc.edu)
  • The top-left plot is a "heat map" of the LOD scores for each time point at each genomic position. (wisc.edu)
  • We studied the association between major depression (score 10 on Patient Health Questionnaire [PHQ-8] depression scale) and T-scores (scaled to population mean of 50, SD of 10) on 12 PROMIS domains representing physical, mental, and social health. (cdc.gov)
  • After the first half of the 2017-18 season, Lod didn't seem to want to sign a new deal in Greece, and Panathinaikos have financial troubles and could be forced to sell in January transfer window. (wikipedia.org)
  • Cristian Roldan had put Seattle ahead five minutes into the second half, reacting fastest to score from a rebound inside the box. (sportsmax.tv)
  • Columbus controlled the ball for much of the second half, but didn't generate many quality scoring chances. (fox9.com)
  • LOD scores are also colored to indicate the sign of the QTL effect, with red indicating that BB lines have larger phenotype values and blue indicating that AA lines have larger phenotype values. (wisc.edu)
  • Stroke due to atrial fibrillation in a population-based stroke registry (Ludwigshafen stroke Study) CHADS(2), CHA(2) DS(2) -VASc score, underuse of oral anticoagulation, and implications for preventive measures. (uni-heidelberg.de)
  • This is an illustration of permutation test: Click the green button to shuffle the phenotypes and re-draw the LOD curves. (wisc.edu)
  • The heritability estimates were 42% for KMT, 57% for SP, 21% for ST and 48% for the combined music test scores. (bmj.com)