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.
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 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.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
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).
The geographical area of Africa comprising ALGERIA; EGYPT; LIBYA; MOROCCO; and TUNISIA. It includes also the vast deserts and oases of the Sahara. It is often referred to as North Africa, French-speaking Africa, or the Maghreb. (From Webster's New Geographical Dictionary, 1988, p856)
Ethnic group originating in India and entering Europe in the 14th or 15th century.
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.
Individual members of Central American ethnic groups with ancient historic ancestral origins in Asia. Mexican Indians are not included.
Genotypic differences observed among individuals in a population.
The discipline studying genetic composition of populations and effects of factors such as GENETIC SELECTION, population size, MUTATION, migration, and GENETIC DRIFT on the frequencies of various GENOTYPES and PHENOTYPES using a variety of GENETIC TECHNIQUES.
The doctrines and policies of the Nazis or the National Social German Workers party, which ruled Germany under Adolf Hitler from 1933-1945. These doctrines and policies included racist nationalism, expansionism, and state control of the economy. (from Columbia Encyclopedia, 6th ed. and American Heritage College Dictionary, 3d ed.)
Biochemical identification of mutational changes in a nucleotide sequence.
The magnitude of INBREEDING in humans.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
The science dealing with the earth and its life, especially the description of land, sea, and air and the distribution of plant and animal life, including humanity and human industries with reference to the mutual relations of these elements. (From Webster, 3d ed)
Genes that influence the PHENOTYPE only in the homozygous state.
Province of Canada consisting of the island of Newfoundland and an area of Labrador. Its capital is St. John's.
Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).
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 widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)
Individual members of South American ethnic groups with historic ancestral origins in Asia.
The biological objects that contain genetic information and that are involved in transmitting genetically encoded traits from one organism to another.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Australia, New Zealand and neighboring islands in the South Pacific Ocean. (Random House Unabridged Dictionary, 2d ed.)
The fluctuation of the ALLELE FREQUENCY from one generation to the next.
Human experimentation that is not intended to benefit the subjects on whom it is performed. Phase I drug studies (CLINICAL TRIALS, PHASE I AS TOPIC) and research involving healthy volunteers are examples of nontherapeutic human experimentation.
An individual in which both alleles at a given locus are identical.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
The change in gene frequency in a population due to migration of gametes or individuals (ANIMAL MIGRATION) across population barriers. In contrast, in GENETIC DRIFT the cause of gene frequency changes are not a result of population or gamete movement.
An individual having different alleles at one or more loci regarding a specific character.
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)
Any method used for determining the location of and relative distances between genes on a chromosome.
The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.
The relationships of groups of organisms as reflected by their genetic makeup.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
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.
A country in northern Africa between ALGERIA and LIBYA. Its capital is Tunis.
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 sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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)
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.
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.
A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The MEDITERRANEAN SEA, the MEDITERRANEAN ISLANDS, and the countries bordering on the sea collectively.
Non-native organisms brought into a region, habitat, or ECOSYSTEM by human activity.
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
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.
I'm sorry for any confusion, but 'Europe' is a geographical continent and not a medical term; therefore, it doesn't have a medical definition.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
The splitting of an ancestral species into daughter species that coexist in time (King, Dictionary of Genetics, 6th ed). Causal factors may include geographic isolation, HABITAT geometry, migration, REPRODUCTIVE ISOLATION, random GENETIC DRIFT and MUTATION.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
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.
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
The process of cumulative change over successive generations through which organisms acquire their distinguishing morphological and physiological characteristics.
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.
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!
I'm sorry for any confusion, but "Italy" is not a medical term or concept, it's a country located in Southern Europe. If you have any questions related to medical topics, I'd be happy to help with those!
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
The process of leaving one's country to establish residence in a foreign country.
Parliamentary democracy located between France on the northeast and Portugual on the west and bordered by the Atlantic Ocean and the Mediterranean Sea.
The pattern of any process, or the interrelationship of phenomena, which affects growth or change within a population.
Number of individuals in a population relative to space.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
I'm afraid there seems to be a misunderstanding - "Africa" is not a medical term and does not have a medical definition. Africa is the world's second-largest and second-most populous continent, consisting of 54 countries with diverse cultures, peoples, languages, and landscapes. If you have any questions related to medical topics or definitions, I would be happy to help answer those for you!
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.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
I'm sorry for any confusion, but "Israel" is a country in the Middle East and does not have a medical definition. If you have any medical questions or terms you would like me to define, I'd be happy to help!
A province of eastern Canada. Its capital is Quebec. The region belonged to France from 1627 to 1763 when it was lost to the British. The name is from the Algonquian quilibek meaning the place where waters narrow, referring to the gradually narrowing channel of the St. Lawrence or to the narrows of the river at Cape Diamond. (From Webster's New Geographical Dictionary, 1988, p993 & Room, Brewer's Dictionary of Names, 1992, p440)
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
While there isn't a specific medical definition for "North America," I can provide a geographical definition that is often used in public health and medical contexts: North America is the third largest continent by area, encompassing 23 independent states, including the United States, Canada, and Mexico, which are home to diverse populations, cultures, and ecosystems, and share common health-related challenges such as obesity, diabetes, and healthcare access disparities.
Deletion of sequences of nucleic acids from the genetic material of an individual.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
A social group consisting of parents or parent substitutes and children.
A characteristic symptom complex.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (1/781)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Analysis of spinocerebellar ataxia type 2 gene and haplotype analysis: (CCG)1-2 polymorphism and contribution to founder effect. (2/781)

Spinocerebellar ataxia type 2 is a familial spinocerebellar ataxia with autosomal dominant inheritance. The gene responsible was recently cloned and this disorder was found to be the result of a CAG expansion in its open reading frame. We analysed 13 SCA2 patients in seven unrelated families in Gunma Prefecture, Japan. In four of the seven families, we detected CCG or CCGCCG interruptions in only the expanded alleles. Cosegregation of these polymorphisms with SCA2 patients was established within each family. Together with the results of haplotype analyses, we considered that at least two founders were present in our area and that these (CCG)1-2 polymorphisms may make analysis of founder effects easier. By sequencing analysis we found that although the number of the long CAG repeat varied in each subclone of expanded alleles, these polymorphisms did not change their configuration. This finding suggests that CCG or CCGCCG sequences are stable when surrounded by the long CAG repeat and a single CAG. Moreover, the presence of these polymorphisms may lead to miscounting the repeat size by conventional estimation using a size marker such as an M13 sequencing ladder. Therefore we should consider these polymorphisms and accurately determine the repeat size by sequencing.  (+info)

Location score and haplotype analyses of the locus for autosomal recessive spastic ataxia of Charlevoix-Saguenay, in chromosome region 13q11. (3/781)

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)

Ancestral Asian source(s) of new world Y-chromosome founder haplotypes. (4/781)

Haplotypes constructed from Y-chromosome markers were used to trace the origins of Native Americans. Our sample consisted of 2,198 males from 60 global populations, including 19 Native American and 15 indigenous North Asian groups. A set of 12 biallelic polymorphisms gave rise to 14 unique Y-chromosome haplotypes that were unevenly distributed among the populations. Combining multiallelic variation at two Y-linked microsatellites (DYS19 and DXYS156Y) with the unique haplotypes results in a total of 95 combination haplotypes. Contra previous findings based on Y- chromosome data, our new results suggest the possibility of more than one Native American paternal founder haplotype. We postulate that, of the nine unique haplotypes found in Native Americans, haplotypes 1C and 1F are the best candidates for major New World founder haplotypes, whereas haplotypes 1B, 1I, and 1U may either be founder haplotypes and/or have arrived in the New World via recent admixture. Two of the other four haplotypes (YAP+ haplotypes 4 and 5) are probably present because of post-Columbian admixture, whereas haplotype 1G may have originated in the New World, and the Old World source of the final New World haplotype (1D) remains unresolved. The contrasting distribution patterns of the two major candidate founder haplotypes in Asia and the New World, as well as the results of a nested cladistic analysis, suggest the possibility of more than one paternal migration from the general region of Lake Baikal to the Americas.  (+info)

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews. (5/781)

Three founder mutations in the cancer-associated genes BRCA1 and BRCA2 occur frequently enough among Ashkenazi Jews to warrant consideration of genetic testing outside the setting of high-risk families with multiple cases of breast or ovarian cancer. We estimated the prevalence of these founder mutations in BRCA1 and BRCA2 in the general population of Ashkenazi Jews according to age at testing, personal cancer history, and family cancer history. We compared the results of anonymous genetic testing of blood samples obtained in a survey of >5,000 Jewish participants from the Washington, DC, area with personal and family cancer histories obtained from questionnaires completed by the participants. In all subgroups defined by age and cancer history, fewer mutations were found in this community sample than in clinical series studied to date. For example, 11 (10%) of 109 Jewish women who had been given a diagnosis of breast cancer in their forties carried one of the mutations. The most important predictor of mutation status was a previous diagnosis of breast or ovarian cancer. In men and in women never given a diagnosis of cancer, family history of breast cancer before age 50 years was the strongest predictor. As interest in genetic testing for BRCA1 and BRCA2 in the Jewish community broadens, community-based estimates such as these help guide those seeking and those offering such testing. Even with accurate estimates of the likelihood of carrying a mutation and the likelihood of developing cancer if a mutation is detected, the most vexing clinical problems remain.  (+info)

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. (6/781)

In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. One mutation, 2588G-->C, identified in 15 (37.5%) patients, shows linkage disequilibrium with a rare polymorphism (2828G-->A) in exon 19, suggesting a founder effect. The guanine at position 2588 is part of the 3' splice site of exon 17. Analysis of the lymphoblastoid cell mRNA of two STGD patients with the 2588G-->C mutation shows that the resulting mutant ABCR proteins either lack Gly863 or contain the missense mutation Gly863Ala. We hypothesize that the 2588G-->C alteration is a mild mutation that causes STGD only in combination with a severe ABCR mutation. This is supported in that the accompanying ABCR mutations in at least five of eight STGD patients are null (severe) and that a combination of two mild mutations has not been observed among 68 STGD patients. The 2588G-->C mutation is present in 1 of every 35 western Europeans, a rate higher than that of the most frequent severe autosomal recessive mutation, the cystic fibrosis conductance regulator gene mutation DeltaPhe508. Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.  (+info)

Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease. (7/781)

Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be infectious, sporadic, or hereditary. The 200K point mutation in the PRNP gene is the most frequent cause of hereditary CJD, accounting for >70% of families with CJD worldwide. Prevalence of the 200K variant of familial CJD is especially high in Slovakia, Chile, and Italy, and among populations of Libyan and Tunisian Jews. To study ancestral origins of the 200K mutation-associated chromosomes, we selected microsatellite markers flanking the PRNP gene on chromosome 20p12-pter and an intragenic single-nucleotide polymorphism at the PRNP codon 129. Haplotypes were constructed for 62 CJD families originating from 11 world populations. The results show that Libyan, Tunisian, Italian, Chilean, and Spanish families share a major haplotype, suggesting that the 200K mutation may have originated from a single mutational event, perhaps in Spain, and spread to all these populations with Sephardic migrants expelled from Spain in the Middle Ages. Slovakian families and a family of Polish origin show another unique haplotype. The haplotypes in families from Germany, Sicily, Austria, and Japan are different from the Mediterranean or eastern European haplotypes. On the basis of this study, we conclude that founder effect and independent mutational events are responsible for the current geographic distribution of hereditary CJD associated with the 200K mutation.  (+info)

Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. (8/781)

Familial dysautonomia (FD) is an autosomal recessive disorder characterized by developmental arrest in the sensory and autonomic nervous systems and by Ashkenazi Jewish ancestry. We previously had mapped the defective gene (DYS) to an 11-cM segment of chromosome 9q31-33, flanked by D9S53 and D9S105. By using 11 new polymorphic loci, we now have narrowed the location of DYS to <0.5 cM between the markers 43B1GAGT and 157A3. Two markers in this interval, 164D1 and D9S1677, show no recombination with the disease. Haplotype analysis confirmed this candidate region and revealed a major haplotype shared by 435 of 441 FD chromosomes, indicating a striking founder effect. Three other haplotypes, found on the remaining 6 FD chromosomes, might represent independent mutations. The frequency of the major FD haplotype in the Ashkenazim (5 in 324 control chromosomes) was consistent with the estimated DYS carrier frequency of 1 in 32, and none of the four haplotypes associated with FD was observed on 492 non-FD chromosomes from obligatory carriers. It is now possible to provide accurate genetic testing both for families with FD and for carriers, on the basis of close flanking markers and the capacity to identify >98% of FD chromosomes by their haplotype.  (+info)

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.

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.

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.

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!

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.

Northern Africa is a geographical region that broadly consists of the countries of the African Transverse, which are Algeria, Libya, Egypt, Tunisia, Morocco, and Western Sahara. Sometimes, it may also include Sudan, South Sudan, and Mauritania. This region is characterized by its proximity to the Mediterranean Sea and the Atlas Mountains, as well as its unique cultural and historical heritage. Northern Africa has a diverse climate, with a hot, dry desert climate in the interior and a milder, wetter climate along the coasts. The major languages spoken in this region include Arabic, Berber, and French.

I believe there may be some confusion in your question. "Gypsies" is a term often used to refer to the Romani people, who are an ethnic group with a unique language and culture. It's important to note that using the term "Gypsy" as a medical label or definition can be considered pejorative and disrespectful, as it has been historically associated with discrimination and negative stereotypes.

If you're asking for a medical definition related to Romani people, there isn't one, as they are an ethnic group and not a medical condition. However, if you have any specific medical concerns or conditions in mind, I would be happy to help provide a definition or explanation for those.

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 the term "Indians, Central American" is not a medical term. It refers to individuals or populations that originate from Central America and self-identify as indigenous or native to the region. In a medical context, it's more common to see specific references to individual ethnic groups or populations, such as Maya, Garifuna, or Miskitu, among others. These groups may have unique genetic characteristics, health risks, or cultural practices that are relevant to medical care and research. However, it's important to note that any discussion of medical issues should be sensitive to the individual's self-identified ethnicity and personal preferences.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

Population Genetics is a subfield of genetics that deals with the genetic composition of populations and how this composition changes over time. It involves the study of the frequency and distribution of genes and genetic variations in populations, as well as the evolutionary forces that contribute to these patterns, such as mutation, gene flow, genetic drift, and natural selection.

Population genetics can provide insights into a wide range of topics, including the history and relationships between populations, the genetic basis of diseases and other traits, and the potential impacts of environmental changes on genetic diversity. This field is important for understanding evolutionary processes at the population level and has applications in areas such as conservation biology, medical genetics, and forensic science.

National Socialism, also known as Nazism, is not a medical term. It is a political ideology that originated in Germany in the early 20th century and was associated with the Nazi Party and its leader, Adolf Hitler. The ideology was characterized by extreme nationalism, racism, anti-Semitism, and totalitarianism.

While National Socialism is not a medical term, it has had significant impacts on the history of medicine, particularly during World War II when the Nazi regime implemented policies that led to the systematic persecution and murder of millions of people, including six million Jews in the Holocaust. The Nazi regime also conducted unethical medical experiments on prisoners in concentration camps, which have been widely condemned.

Therefore, while National Socialism is not a medical term, it is important for medical professionals to be aware of its historical context and the ways in which political ideologies can impact medical ethics and practice.

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.

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.

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.

I'm sorry for any confusion, but "geography" is not a term that has a medical definition. Geography is a field of study that deals with the location and distribution of physical and cultural features on Earth's surface, as well as how humans interact with and affect those features. It is not a concept that is typically used in a medical context. If you have any questions related to medicine or healthcare, I would be happy to try to help answer them for you!

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.

I'm sorry for any confusion, but "Newfoundland and Labrador" is not a medical term or concept. It is a geographical term referring to a province on the eastern coast of Canada. The name refers to the island of Newfoundland and the mainland region of Labrador, which together make up the tenth provincial division of Canada. If you have any medical questions or terms that you would like defined, I'd be happy to help!

Keratoderma, palmoplantar is a medical term that refers to a group of skin conditions characterized by thickening and hardening (hyperkeratosis) of the skin on the palms of the hands and soles of the feet. This condition can affect people of all ages, but it's most commonly seen in children.

The thickening of the skin is caused by an overproduction of keratin, a protein that helps to form the tough, outer layer of the skin. In palmoplantar keratoderma, this excess keratin accumulates in the stratum corneum, the outermost layer of the epidermis, leading to the formation of rough, scaly, and thickened patches on the palms and soles.

There are several different types of palmoplantar keratoderma, each with its own specific symptoms and causes. Some forms of the condition are inherited and present at birth or develop in early childhood, while others may be acquired later in life as a result of an underlying medical condition, such as atopic dermatitis, lichen planus, or psoriasis.

Treatment for palmoplantar keratoderma typically involves the use of emollients and keratolytic agents to help soften and remove the thickened skin. In some cases, oral retinoids or other systemic medications may be necessary to manage more severe symptoms. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.

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.

Exfoliative dermatitis is a severe form of widespread inflammation of the skin (dermatitis), characterized by widespread scaling and redness, leading to the shedding of large sheets of skin. It can be caused by various factors such as drug reactions, underlying medical conditions (like lymphoma or leukemia), or extensive eczema. Treatment typically involves identifying and removing the cause, along with supportive care, such as moisturizers and medications to control inflammation and itching. In severe cases, hospitalization may be necessary for close monitoring and management of fluid and electrolyte balance.

I believe you are asking for a description or explanation of the indigenous peoples of South America, rather than a "medical definition." A medical definition would typically apply to a condition or disease. Here is some information about the indigenous peoples of South America:

The indigenous peoples of South America are the original inhabitants of the continent and its islands, who lived there before the European colonization. They include a wide variety of ethnic groups, languages, and cultures, with distinct histories and traditions. Many indigenous communities in South America have faced significant challenges, including displacement from their lands, marginalization, and discrimination.

According to estimates by the United Nations, there are approximately 45 million indigenous people in Latin America, of which about 30 million live in South America. They represent around 7% of the total population of South America. Indigenous peoples in South America can be found in all countries, with the largest populations in Bolivia (62%), Guatemala (41%), and Peru (25%).

Indigenous peoples in South America have a rich cultural heritage, including unique languages, arts, and spiritual practices. Many of these cultures are under threat due to globalization, urbanization, and the loss of traditional lands and resources. In recent years, there has been increased recognition of the rights of indigenous peoples in international law, including the right to self-determination, cultural heritage, and free, prior, and informed consent for projects that affect their territories. However, significant challenges remain, and many indigenous communities continue to face violence, discrimination, and poverty.

Genetic structures refer to the organization and composition of genetic material, primarily DNA, that contain the information necessary for the development and function of an organism. This includes the chromosomes, genes, and regulatory elements that make up the genome.

Chromosomes are thread-like structures located in the nucleus of a cell that consist of DNA coiled around histone proteins. They come in pairs, with most species having a specific number of chromosomes in each set (diploid).

Genes are segments of DNA that code for specific proteins or RNA molecules, and they are the basic units of heredity. They can be located on chromosomes and can vary in length and complexity.

Regulatory elements are non-coding sequences of DNA that control the expression of genes by regulating when, where, and to what extent a gene is turned on or off. These elements can include promoters, enhancers, silencers, and insulators.

Overall, genetic structures provide the blueprint for an organism's traits and characteristics, and understanding their organization and function is crucial in fields such as genetics, genomics, and molecular biology.

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.

Australasia is not a medical term, but a geographical region that includes Australia, New Zealand, and the islands of the Pacific Ocean that are southwest of the Asian continent. It is sometimes used in a broader sense to include Papua New Guinea, the eastern islands of Indonesia, and the island nations of the South Pacific.

Therefore, there is no medical definition for 'Australasia'. However, it is important to note that Australia and New Zealand have well-developed healthcare systems and high standards of medical care, while some of the smaller island nations in the region may have more limited resources and access to medical services.

Genetic drift is a mechanism of evolution that causes changes in the frequency of alleles (versions of a gene) in a population due to random sampling. It occurs when the sample size is small, and therefore the genetic variation may not reflect the population's genetic diversity as a whole. This can lead to the loss of certain alleles and an increase in others, even if those alleles are not necessarily advantageous or disadvantageous. Genetic drift can be a significant factor in shaping the genetic composition of small, isolated populations and can result in the fixation (complete loss or gain) of particular alleles over time.

Nontherapeutic human experimentation refers to medical research studies in which the primary goal is not to directly benefit the participants, but rather to advance scientific knowledge or develop new medical technologies. These studies often involve some level of risk or discomfort for the participants, and may include the administration of experimental treatments, procedures, or interventions.

Nontherapeutic human experimentation can take many forms, including clinical trials, observational studies, and other types of research involving human subjects. In these studies, researchers must carefully weigh the potential benefits of the research against the risks to the participants, and ensure that all participants are fully informed of the nature of the study, its purposes, and any potential risks or benefits before providing their consent to participate.

It's important to note that nontherapeutic human experimentation is subject to strict ethical guidelines and regulations, designed to protect the rights and welfare of research participants. These guidelines and regulations are intended to ensure that all research involving human subjects is conducted in a responsible and ethical manner, with the goal of advancing scientific knowledge while minimizing harm to participants.

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.

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.

Mitochondrial DNA (mtDNA) is the genetic material present in the mitochondria, which are specialized structures within cells that generate energy. Unlike nuclear DNA, which is present in the cell nucleus and inherited from both parents, mtDNA is inherited solely from the mother.

MtDNA is a circular molecule that contains 37 genes, including 13 genes that encode for proteins involved in oxidative phosphorylation, a process that generates energy in the form of ATP. The remaining genes encode for rRNAs and tRNAs, which are necessary for protein synthesis within the mitochondria.

Mutations in mtDNA can lead to a variety of genetic disorders, including mitochondrial diseases, which can affect any organ system in the body. These mutations can also be used in forensic science to identify individuals and establish biological relationships.

Gene flow, also known as genetic migration or gene admixture, refers to the transfer of genetic variation from one population to another. It occurs when individuals reproduce and exchange genes with members of other populations through processes such as migration and interbreeding. This can result in an alteration of the genetic composition of both populations, increasing genetic diversity and reducing the differences between them. Gene flow is an important mechanism in evolutionary biology and population genetics, contributing to the distribution and frequency of alleles (versions of a gene) within and across populations.

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.

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.

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.

Human Y chromosomes are one of the two sex-determining chromosomes in humans (the other being the X chromosome). They are found in the 23rd pair of human chromosomes and are significantly smaller than the X chromosome.

The Y chromosome is passed down from father to son through the paternal line, and it plays a crucial role in male sex determination. The SRY gene (sex-determining region Y) on the Y chromosome initiates the development of male sexual characteristics during embryonic development.

In addition to the SRY gene, the human Y chromosome contains several other genes that are essential for sperm production and male fertility. However, the Y chromosome has a much lower gene density compared to other chromosomes, with only about 80 protein-coding genes, making it one of the most gene-poor chromosomes in the human genome.

Because of its small size and low gene density, the Y chromosome is particularly susceptible to genetic mutations and deletions, which can lead to various genetic disorders and male infertility. Nonetheless, the Y chromosome remains a critical component of human genetics and evolution, providing valuable insights into sex determination, inheritance patterns, and human diversity.

Phylogeny is the evolutionary history and relationship among biological entities, such as species or genes, based on their shared characteristics. In other words, it refers to the branching pattern of evolution that shows how various organisms have descended from a common ancestor over time. Phylogenetic analysis involves constructing a tree-like diagram called a phylogenetic tree, which depicts the inferred evolutionary relationships among organisms or genes based on molecular sequence data or other types of characters. This information is crucial for understanding the diversity and distribution of life on Earth, as well as for studying the emergence and spread of diseases.

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.

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.

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.

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 "Tunisia" is not a medical term. It is actually the name of a country located in North Africa, known for its rich history, beautiful coastline, and vibrant culture. If you have any questions about medical terms or if there's another topic you'd like to know more about, please let me know!

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 base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

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.

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.

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.

I'm sorry for any confusion, but "France" is not a medical term or concept. France is the largest country in Western Europe and the third-largest in Europe after Russia and Ukraine. It has been a major player in world affairs for centuries, with a significant cultural and artistic influence. If you have any questions about medical terms or concepts, I would be happy to help answer those for you.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

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).

I'm sorry for any confusion, but "Mediterranean Region" is not a term with a specific medical definition. The Mediterranean Region typically refers to the geographical area surrounding the Mediterranean Sea, including countries in Southern Europe, North Africa, and Western Asia. However, in a medical context, it might refer to the study of diseases or health characteristics typical of certain populations in this region. For example, the "Mediterranean diet" is a popular term in nutrition and medicine, referring to the traditional eating habits in Mediterranean countries, which are associated with numerous health benefits. If you're looking for medical information related to a specific aspect of the Mediterranean Region or its population, please provide more context so I can give you a more accurate response.

In the context of medical and ecological health, an "introduced species" refers to a plant or animal population that has been intentionally or unintentionally introduced by human actions into a new environment, outside of their natural historical range, where they do not have any known native predecessors. These introductions can occur through various means such as accidental transportation in cargo, deliberate releases for purposes like biological control or pets, and escapes from cultivation.

Introduced species can become invasive if they adapt well to their new environment, reproduce rapidly, outcompete native species for resources, and disrupt local ecosystems. This can lead to significant ecological changes, loss of biodiversity, impacts on human health, and economic consequences. Some introduced species carry diseases or parasites that can affect humans, livestock, and wildlife in the new environment, posing potential public health concerns.

BRCA1 (BReast CAncer gene 1) is a tumor suppressor gene that produces a protein involved in repairing damaged DNA and maintaining genetic stability. Mutations in the BRCA1 gene are associated with an increased risk of developing hereditary breast and ovarian cancers. Inherited mutations in this gene account for about 5% of all breast cancers and about 10-15% of ovarian cancers. Women who have a mutation in the BRCA1 gene have a significantly higher risk of developing breast cancer and ovarian cancer compared to women without mutations. The protein produced by the BRCA1 gene also interacts with other proteins to regulate cell growth and division, so its disruption can lead to uncontrolled cell growth and tumor formation.

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.

I'm sorry for any confusion, but the term "Europe" is a geographical and political designation, rather than a medical one. It refers to the continent located entirely in the Northern Hemisphere and mostly in the Eastern Hemisphere. It is bordered by the Arctic Ocean to the north, the Atlantic Ocean to the west, and the Mediterranean Sea to the south. Europe is made up of approximately 50 countries, depending on how one defines a "country."

If you have any questions related to medical terminology or health-related topics, I'd be happy to help answer them!

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Genetic speciation is not a widely used term in the scientific literature, but it generally refers to the process by which new species arise due to genetic differences and reproductive isolation. This process can occur through various mechanisms such as mutation, gene flow, genetic drift, natural selection, or chromosomal changes that lead to the accumulation of genetic differences between populations. Over time, these genetic differences can result in the development of reproductive barriers that prevent interbreeding between the populations, leading to the formation of new species.

In other words, genetic speciation is a type of speciation that involves the evolution of genetic differences that ultimately lead to the formation of new species. It is an essential concept in the field of evolutionary biology and genetics, as it explains how biodiversity arises over time.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

BRCA2 (pronounced "braca two") protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA in cells. It is encoded by the BRCA2 gene, which is located on chromosome 13. Mutations in the BRCA2 gene have been associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer in women, and breast and prostate cancer in men.

The BRCA2 protein interacts with other proteins to repair double-strand breaks in DNA through a process called homologous recombination. When the BRCA2 protein is not functioning properly due to a mutation, damaged DNA may not be repaired correctly, leading to genetic instability and an increased risk of cancer.

It's important to note that not all people with BRCA2 mutations will develop cancer, but their risk is higher than those without the mutation. Genetic testing can identify individuals who have inherited a mutation in the BRCA2 gene and help guide medical management and screening recommendations.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

"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.

Spinocerebellar degenerations (SCDs) are a group of genetic disorders that primarily affect the cerebellum, the part of the brain responsible for coordinating muscle movements, and the spinal cord. These conditions are characterized by progressive degeneration or loss of nerve cells in the cerebellum and/or spinal cord, leading to various neurological symptoms.

SCDs are often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene from either parent is enough to cause the disorder. The most common type of SCD is spinocerebellar ataxia (SCA), which includes several subtypes (SCA1, SCA2, SCA3, etc.) differentiated by their genetic causes and specific clinical features.

Symptoms of spinocerebellar degenerations may include:

1. Progressive ataxia (loss of coordination and balance)
2. Dysarthria (speech difficulty)
3. Nystagmus (involuntary eye movements)
4. Oculomotor abnormalities (problems with eye movement control)
5. Tremors or other involuntary muscle movements
6. Muscle weakness and spasticity
7. Sensory disturbances, such as numbness or tingling sensations
8. Dysphagia (difficulty swallowing)
9. Cognitive impairment in some cases

The age of onset, severity, and progression of symptoms can vary significantly among different SCD subtypes and individuals. Currently, there is no cure for spinocerebellar degenerations, but various supportive treatments and therapies can help manage symptoms and improve quality of life.

Biological evolution is the change in the genetic composition of populations of organisms over time, from one generation to the next. It is a process that results in descendants differing genetically from their ancestors. Biological evolution can be driven by several mechanisms, including natural selection, genetic drift, gene flow, and mutation. These processes can lead to changes in the frequency of alleles (variants of a gene) within populations, resulting in the development of new species and the extinction of others over long periods of time. Biological evolution provides a unifying explanation for the diversity of life on Earth and is supported by extensive evidence from many different fields of science, including genetics, paleontology, comparative anatomy, and biogeography.

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.

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.

I'm sorry for any confusion, but "Italy" is not a medical term or concept. It is a country located in Southern Europe. If you have any questions related to medical terminology or health-related topics, I would be happy to try and help answer those for you.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Molecular evolution is the process of change in the DNA sequence or protein structure over time, driven by mechanisms such as mutation, genetic drift, gene flow, and natural selection. It refers to the evolutionary study of changes in DNA, RNA, and proteins, and how these changes accumulate and lead to new species and diversity of life. Molecular evolution can be used to understand the history and relationships among different organisms, as well as the functional consequences of genetic changes.

Emigration is the process of leaving one's country of origin or habitual residence to settle in another country. It involves giving up the rights and privileges associated with citizenship in the country of origin and acquiring new rights and responsibilities as a citizen or resident of the destination country. Emigrants are people who choose to leave their native land to live elsewhere, often driven by factors such as economic opportunities, political instability, or conflict.

Immigration, on the other hand, is the process of entering and settling in a new country with the intention of becoming a permanent resident or citizen. Immigrants are individuals who come from another country to live in a new place, often seeking better job opportunities, education, or quality of life. They must comply with the immigration laws and regulations of the host country and may be required to undergo medical examinations, background checks, and other screening processes before being granted permission to enter and reside in the country.

In summary, emigration refers to leaving one's home country, while immigration refers to entering and settling in a new country.

I'm sorry for any confusion, but "Spain" is not a medical term. It is a country located in southwestern Europe. If you have any questions about medical terms or topics, I would be happy to help answer them.

Population dynamics, in the context of public health and epidemiology, refers to the study of the changes in size and structure of a population over time, as well as the factors that contribute to those changes. This can include birth rates, death rates, migration patterns, aging, and other demographic characteristics. Understanding population dynamics is crucial for planning and implementing public health interventions, such as vaccination programs or disease prevention strategies, as they allow researchers and policymakers to identify vulnerable populations, predict future health trends, and evaluate the impact of public health initiatives.

I'm sorry for any confusion, but "population density" is actually a term used in population geography and epidemiology, rather than medical terminology. It refers to the number of people living in a specific area or region, usually measured as the number of people per square mile or square kilometer.

However, understanding population density can be important in public health and medicine because it can influence various factors related to health outcomes and healthcare delivery, such as:

1. Disease transmission rates: Higher population densities can facilitate the spread of infectious diseases, particularly those that are transmitted through close contact between individuals.
2. Access to healthcare services: Areas with lower population density might have fewer healthcare resources and providers available, making it more challenging for residents to access necessary medical care.
3. Health disparities: Population density can contribute to health inequities, as urban areas often have better access to healthcare, education, and economic opportunities than rural areas, leading to differences in health outcomes between these populations.
4. Environmental factors: Higher population densities might lead to increased pollution, noise, and other environmental hazards that can negatively impact health.

Therefore, while "population density" is not a medical definition per se, it remains an essential concept for understanding various public health and healthcare issues.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

I'm sorry for any confusion, but the term "Africa" actually refers to a continent, not a medical condition or concept. Africa is the second-largest continent in the world, consisting of 54 countries and a wide range of diverse ethnic groups, cultures, languages, and landscapes. It is home to a vast array of wildlife, including many species that are not found anywhere else in the world. If you have any questions about Africa's geography, history, or culture, I would be happy to try to help answer them!

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.

A nonsense codon is a sequence of three nucleotides in DNA or RNA that does not code for an amino acid. Instead, it signals the end of the protein-coding region of a gene and triggers the termination of translation, the process by which the genetic code is translated into a protein.

In DNA, the nonsense codons are UAA, UAG, and UGA, which are also known as "stop codons." When these codons are encountered during translation, they cause the release of the newly synthesized polypeptide chain from the ribosome, bringing the process of protein synthesis to a halt.

Nonsense mutations are changes in the DNA sequence that result in the appearance of a nonsense codon where an amino acid-coding codon used to be. These types of mutations can lead to premature termination of translation and the production of truncated, nonfunctional proteins, which can cause genetic diseases or contribute to cancer development.

I'm sorry for any confusion, but "Israel" is not a medical term. It is a country located in the Middle East. If you have any medical questions or terms you would like defined, I would be happy to help!

I'm sorry for any confusion, but "Quebec" is not a medical term. It is a place name, referring to the Canadian province of Quebec. If you have any questions about medical terms or concepts, I would be happy to help answer those!

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.

Genetic selection, also known as natural selection, is a fundamental mechanism of evolution. It refers to the process by which certain heritable traits become more or less common in a population over successive generations due to differential reproduction of organisms with those traits.

In genetic selection, traits that increase an individual's fitness (its ability to survive and reproduce) are more likely to be passed on to the next generation, while traits that decrease fitness are less likely to be passed on. This results in a gradual change in the distribution of traits within a population over time, leading to adaptation to the environment and potentially speciation.

Genetic selection can occur through various mechanisms, including viability selection (differential survival), fecundity selection (differences in reproductive success), and sexual selection (choices made by individuals during mating). The process of genetic selection is driven by environmental pressures, such as predation, competition for resources, and changes in the availability of food or habitat.

I'm sorry for any confusion, but "North America" is not a medical term. It is a geographical term that refers to the third largest continent in the world, which includes countries such as the United States, Canada, and Mexico, among others. If you have any questions related to medical terminology or health topics, I'd be happy to help with those!

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

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).

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.

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.

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.

A population bottleneck may also cause a founder effect, though it is not strictly a new population. The founder effect occurs ... ISBN 978-0-674-03750-2. Wikimedia Commons has media related to Founder effect. Founder effect (Articles with short description ... The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling ... Founder effects can affect complex traits, such as song diversity. In the Common Myna (Acridotheres tristis), the percentage of ...
Related concepts include: Founder effect- the loss of genetic variation that occurs when a new population is established by a ... Founder effect can also lead to the development of new species. Designer crossbred-Usually describes F1 crosses between two ... "Founder Effect". Genome.gov. Retrieved 6 October 2022. "Foundation Stock Service® Program Home". American Kennel Club. ... p. 101]. "Bottlenecks and founder effects - Understanding Evolution". University of Californat, Berkeley. 7 October 2021. ...
Founder effect. This hypothesis states that the high incidence of the 1278insTATC chromosomes is the result of an elevated ... Slatkin M (2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". American ... risk of giving birth to an affected child with each pregnancy. The affected child would have received a mutated copy of the ... In contrast to the other forms, late-onset Tay-Sachs disease is usually not fatal as the effects can stop progressing. It is ...
This is called the founder effect. In the well established breeds, that are commonly bred, a large gene pool is present. For ... Some of the most harmful effects known from such breeding includes its effects on the mortality rate as well as on the general ... However, these deleterious effects are common for very close relatives but not for those related on the 3rd cousin or greater ... In plant breeding, inbred lines are used as stocks for the creation of hybrid lines to make use of the effects of heterosis. ...
One example of the founder effect is found in the Amish migration to Pennsylvania in 1744. Two of the founders of the colony in ... The founder effect occurs when a small group from one population splits off and forms a new population, often through ... "Genetic Drift and the Founder Effect". Evolution Library (Web resource). Evolution. Boston, MA: WGBH Educational Foundation; ... Genetic drift affects smaller populations more than it affects larger populations. The Hardy-Weinberg principle states that ...
Rotter JI (September 1987). "Observing the founder effect in human evolution". Nature. 329 (6135): 105-106. Bibcode:1987Natur. ... The Effect of Species Diversity on Total Population Density". Proceedings of the National Academy of Sciences. 67 (4): 1715- ... Veitch CR (January 1981). "Extinctions and Introductions in the New Zealand Avifauna: Cause and Effect?". Science. 211 (4481): ...
"Wikipilipinas founder aims for 'long tail' effect". Technology. Asian Journal. August 23, 2007. Retrieved August 27, 2007. " ... Casiraya, Lawrence (August 23, 2007). "Wikipilipinas founder aims for 'long tail' effect". Breaking News/Infotech. Inquirer.net ... by its New York-based founder Gaspar Vibal and webmaster Richard Grimaldo. Octogenarian book publisher Esther A. Vibal, founder ... Founder Gaspar Vibal describes "improvements" including a directory of web portals based on those of Yahoo!, Inc., and ...
The founder effect is a special case of a population bottleneck, occurring when a small group in a population splinters off ... When a newly formed colony is small, its founders can strongly affect the population's genetic make-up far into the future. A ... "Bottlenecks and founder effects". Understanding Evolution. University of California, Berkeley. Archived from the original on 4 ... This potential for relatively rapid changes in the colony's gene frequency led most scientists to consider the founder effect ( ...
"Side Effect Page". Soulwalking.co.uk. Retrieved November 6, 2021. "R.I.P. Side Effect founder Augie Johnson". SoulTracks. ... Side Effect singer and co-founder Louie Patton". SoulTracks. Retrieved July 3, 2020. "Chart History - Side Effect: TOP R&B/HIP- ... Side Effect discography at Discogs Side Effect at Concord Music (Articles with short description, Short description is ... They later became known as Augie's Side Effect. On October 10, 2014, founder Augie Johnson died at age 66. On June 16, 2020, ...
"The Ripple Effect Wellness Organization , Founders & Advisory Board". TREWO. Retrieved 12 June 2020. "First Eelam- Canadian ... An order of which he was initiated into for his role in preventing Heart disease affecting South Asians in Canada. Devanesen ...
This is an example of the founder effect. Similarly, when brown anoles were introduced to Florida, the native Carolina (or ... Eales; Thorpe; Malhotra (2008). "Weak founder effect signal in a recent introduction of Caribbean Anolis". Molecular Ecology. ... Kolbe; Leal; Schoener; Spiller; Losos (2012). "Founder Effects Persist Despite Adaptive Differentiation: A Field Experiment ... Burghardt, G. (1964). "Effects of prey size and movement on the feeding behavior of the lizards Anolis carolinensis and Eumeces ...
Rob, Abdul (2008-02-14). "Marc Hannah: Special Effects Founder". Black History Month 2023. Retrieved 2023-05-25. "Hannah, Marc ... He is one of the co-founders of Silicon Graphics Inc. Hannah was born on October 13, 1956, in Chicago, Illinois. Hannah ... Hannah was one of the 7 founders of Silicon Graphics Incorporated (SGI). SGI is known for its computer graphics. The company ... American technology company founders, Computer graphics researchers, Computer graphics professionals, Silicon Graphics people) ...
This is likely due to a local founder effect. The International Society of Genetic Genealogy (ISOGG) maintains the most up-to- ...
Not all branches show evidence of a single founder effect. North Eurasian Finno-Ugric-speaking populations were found to be ... with subsequent genetic drift and recurrent founder effects among speakers of various branches of Finno-Ugric. ... showed that the Finno-Ugric-speaking populations do not retain genetic evidence of a common founder. Most possess an ...
"Y chromosome evidence for a founder effect in Ashkenazi Jews". European Journal of Human Genetics. 13 (3): 388-91. doi:10.1038/ ... "refutes the idea of a single founder for Jewish Cohanim who lived in Biblical times." A 2009 academic study by Michael F. ... this record refutes the idea of a single founder for Jewish Cohanim who lived in Biblical times... Y-chromosomal analysis of ... "refutes the idea of a single founder for Jewish Cohanim who lived in Biblical times." However, recent studies have provided ...
Nebel A, Filon D, Faerman M, Soodyall H, Oppenheim A (March 2005). "Y chromosome evidence for a founder effect in Ashkenazi ... Bray, SM; Mulle, JG; Dodd, AF; Pulver, AE; Wooding, S; Warren, ST (September 2010). "Signatures of founder effects, admixture, ... "Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population". PNAS. 107 (37): 16222-27. Bibcode: ... "Admixture Estimation in a Founder Population". Am Soc Hum Genet, 2013". Archived from the original on 11 August 2019. Retrieved ...
The Lithuanian Jewish population may exhibit a genetic founder effect. The utility of these variations has been the subject of ... Slatkin, M (August 2004). "A Population-Genetic Test of Founder Effects and Implications for Ashkenazi Jewish Diseases". Am. J ... high rate of early-onset dystonia in the population has also been identified as possibly stemming from the founder effect. ... as well as numerous other yeshivas founded by students of Lakewood's founder, Rabbi Aharon Kotler. In theoretical Talmud study ...
Together, this is described as the founder effect. Those same communities had diversity in the male lines that was similar to ... The study also found evidence of the historic founder effect of Ashkenazi Jewry, with a third of the individuals sampled found ... The Jewish population of Yemen also reveals a founder effect: 42% of the direct maternal lines are traceable to five women, ... Nebel A, Filon D, Faerman M, Soodyall H, Oppenheim A (March 2005). "Y chromosome evidence for a founder effect in Ashkenazi ...
This is likely due to a local founder effect [1]. Another study has found that Haplogroup G2c-M377 reaches 14.7% in Afghan ...
Hereditary leiomyomatosis and renal cell cancer Founder effect "Fumarase deficiency , Genetic and Rare Diseases Information ... Affected neonates may demonstrate nonspecific signs of poor feeding and hypotonia. Laboratory findings in neonates may indicate ... The condition is an autosomal recessive disorder, and it is therefore usually necessary for an affected individual to receive ... "Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes". ...
Nebel, A; Filon D; Faerman M; Soodyall H; Oppenheim A (2004). "Y chromosome evidence for a founder effect in Ashkenazi Jews". ...
Phage therapy, where applicable, entirely circumvents antibiotic tolerance.[citation needed] Founder effect Population ... Moyed HS, Bertrand KP (1983). "hipA, a newly recognized gene of Escherichia coli K-12 that affects frequency of persistence ...
Nebel A, Filon D, Faerman M, Soodyall H, Oppenheim A (March 2005). "Y chromosome evidence for a founder effect in Ashkenazi ... Nebel A, Filon D, Faerman M, Soodyall H, Oppenheim A (March 2005). "Y chromosome evidence for a founder effect in Ashkenazi ... Ewers proposed the idea that the Viking/Varangian founders were in fact Khazars. The Russian historian Nikolay Karamzin ... this contribution was limited to either a single founder or a few closely related men, and does not exceed ~12% of the present- ...
The high frequencies of mtDNA Haplogroup B in the Polynesians are the result of founder effect and represents the descendants ... The Polynesian population experienced a founder effect and genetic drift. The Polynesian may be distinctively different both ... The population levels of the low-lying islands of Tuvalu had to be managed because of the effects of periodic droughts and the ... When that changed, it had the effect of uplifting the portion of the continent that is modern-day New Zealand. The convergent ...
This is suggested to be due to the Founder effect. The smaller pie charts on the side illustrate the incidence of DHPR and PTPS ... The absence of BH4 affects the metabolism of Phenylalanine. This is the reason that PKU and PTPS deficiency share some similar ... The absence of enough of this molecule causes the movement disorders in an affected individual.[citation needed] To understand ... how the absence of this enzyme affects the body, we must look at the BH4 synthesis pathway. PTPS is an intermediate in this ...
Nebel, Almut; Filon, Dvora; Faerman, Marina (March 2005). "Y chromosome evidence for a founder effect in Ashkenazi Jews". ... and denied this connection in order to avoid the antisemitic effects of the stigma attached to Jews. Several scholars have ... 10th century Zoroastrian Dênkart registered the collapse of Khazar power in attributing its eclipse to the enfeebling effects ...
The Polynesian population experienced a founder effect and genetic drift. Evidence of an ancestral phase in the southern ... the effect was that this small hapu, or clan, had to manufacture, spurred by the penalty of death, in the shortest possible ... and the effects of hunting on New Zealand fur seals (Arctocephalus forsteri)". Mitochondrial DNA Part A. 29 (4): 567-580. doi: ... "Full Mitogenomes in the Critically Endangered Kākāpō Reveal Major Post-Glacial and Anthropogenic Effects on Neutral Genetic ...
... extreme founder effects can lead to speciation. founder event founder-flush-crash founder takes all A hypothesis that describes ... position effect Any effect on the expression or functionality of a gene or sequence that is a consequence of its location or ... floral isolation flowering asynchrony founder effect The loss of genetic variation that occurs when a new, physically isolated ... maternal effect Any nongenetic effect of the mother on the phenotype of her offspring, owing to factors such as cytoplasmic ...
This would affect the regiment's founder resp. commandant, when he was to reimburse the money which had been advanced by the ... From 1823 to 1840 irregular cavalry were officially designated 'Local Horse' and included the founder's name in brackets as in ...
The high frequency of U4 in Lastovo (11.8%) indicates founder effect. Haplogroup J is the third most frequent haplogroup (7.5% ... especially founder effect, has played significant role in shaping genetic composition of the isolated population of the island ... which indicates that the very high frequency in the Western Balkan is because of a founder effect. Utevska calculated that the ... founder effect and population bottlenecks (reduction of population size) which shaped the contemporary population. The results ...
A population bottleneck may also cause a founder effect, though it is not strictly a new population. The founder effect occurs ... ISBN 978-0-674-03750-2. Wikimedia Commons has media related to Founder effect. Founder effect (Articles with short description ... The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling ... Founder effects can affect complex traits, such as song diversity. In the Common Myna (Acridotheres tristis), the percentage of ...
... company founder Ren Zhengfei has said, declaring that the Trump administration underestimates our strength. ... Huaweis 5G will absolutely not be affected by US blacklist, founder says ... Facebook co-founder says its time to break up the social media giant in scathing op-ed ... Huawei isnt going away just because the US government has tried to ban it from its markets, company founder Ren Zhengfei has ...
Bailey Parnell is the Founder & CEO of SkillsCamp, a soft skills training company, and was named one of Canadas Top 100 Most ... 32: How Social Media Can Affect Ones Mental Health - with Bailey Parnell, Founder & CEO of SkillsCamp and TEDx Speaker Trust ... Bailey Parnell is the Founder & CEO of SkillsCamp, a soft skills training company, and was named one of Canadas Top 100 Most ... Bailey Parnell is the Founder & CEO of SkillsCamp, a soft skills training company, and was named one of Canadas Top 100 Most ...
... has recovered a majority of the affected assets, according to its co-founder. ... Johnny Lyu, KuCoins co-founder and CEO, said in a Tweet on Wednesday that 84% of the affected assets have been recovered via ... KuCoin has recovered 84% of affected funds in $280M hack, co-founder says. by Wolfie Zhao ... KuCoin, the crypto exchange that suffered from a $280 million hack in September, has recovered a majority of the affected ...
The effect of founders in IPO firms:A look at IPO firm valuation, delisting likelihood, and litigation risk Title:. The effect ... Founder influences on the development of organizations: A comparison between founder and non‐founder managed Russian firms. ... Wealth and the effects of founder management among IPO stage new ventures. Strategic Management Journal, 22(6-7), 641-658. 12. ... The effect of founders in IPO firms:A look at IPO firm valuation, delisting likelihood, and litigation risk ...
It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully ... affecting autism-associated genes. It also revealed three genes involved in synaptic plasticity, RIMS4, KALRN, and PLA2G4A, ... Founder effect. As the Faroe population originates from a small number of founders, specific changes in allele frequencies ... To achieve a power of 0.8, an effect-size of d = 0.49 was needed. For GPS (Fig. 4a), the observed effect-size is d = 0.45. ...
About the Founder. Posted by August 22nd, 2018 SUSAN PARK. Life Coach, Consultant, Trainer. Founder of "The Ripple Effect ... Welcome to Ripple Effect. Ive always been fascinated by how behaviors and beliefs impact our satisfaction and success. I love ...
Explore the impact of USDT depegging and Curve founders debt on Aave. Get insights on these DeFi sector debates. ... Curve Founders Debt Repayment. Amidst the debates and concerns, Michael Egorov, the founder of Curve Finance, took proactive ... Curve Founders Debt and Aaves Proposal. The controversy began when Gauntlet, a risk and simulation platform, proposed a patch ... One particular incident involves Curve Finance, Aave, and the accumulation of debt by Curves founder, Michael Egorov. ...
... so there is evidence for a founder mutation originating in this part of Iran. ... To investigate the possibility of a founder effect in these four families, we conducted haplotype analysis, and 14 single ... Identification of a founder mutation for Pendred syndrome in families from northwest Iran Int J Pediatr Otorhinolaryngol. 2014 ... The results of haplotype analysis showed that all 15 patients from four families shared the founder mutation. Common haplotypes ...
This is our Founder Elaine Wilkins story that took her from bed-bound to now, recovered and running a thriving community of ... Meet our Founder Now here is Elaines story that took her from bed-bound to now, recovered and running a thriving community of ... Founder The M.E., CFS and Fibromyalgia Recovery Association. *Author of Book - Finding M.E. The Authentic Self Click Here to ... The Chrysalis Effect owes its success to implementing a new model of healthcare that does just that. A model that harnesses ...
The Founder Effect the decrease in genetic variation that results when a little subset of a large population is utilized to ... Why Founder Effect occur?. The founder effect can take place due to many different reasons and circumstances. The founder ... What is Founder Effect?. The Founder Effect the decrease in genetic variation that results when a little subset of a large ... Examples of Founder Effect. Genetic Diseases in Human Beings. Afrikaner Dutch Population. We can see some interesting examples ...
Your crypto activity can have both positive and negative effects, read on to find out more. ... See How Founders CPA Can Help. Its not too late to reach out to our team for guidance on your cryptocurrency taxes. We have ... Our experts at Founders CPA are here to guide you through this process and briefly touch on both the positive and negative ... So, how does cryptocurrency affect taxes and what do you need to know before you file this year? On a basic level, its ...
As a founder, you can use share vesting to your advantage and plan the future of your company. In this article, we take you ... WE.WIKI: The Founders Quick Guide to Equity Management WE.WIKI: the hero founders deserve (and the one they need right now too ... What Founders Need to Know About Vesting. The main thing founders need to know about vesting is that its important to align ... Startup Spotlight: Ekta Mahajan The Founder 2.0 This week we talked to our friend Ekta Mahajan, Founder of Emplio about how the ...
Even when it means accepting you have co-founder problems? In this episode, Sean shares his experience. ... Had the Co-Founder Problems Always Been There?. Sean had two business partners and both were close friends. One from university ... The business was moving forward and Sean and other co-founder Amar had big plans. But Mark clearly wasnt able to step into ... Seans story is one that every founder can relate to when it comes to interpersonal relationships that dont always work out ...
Does Being The First Full-Time Paid Employee Affect That Founders Equity In The Company?. Question: I am one of three founders ... While the founder who is working full time for the company is getting paid and the other founders are not, the other founders ... The question is, does being the first full-time paid employee affect that founders equity in the company? I can see two sides ... A Founders View on Stock Vesting. (Brad) Dave Naffzinger has another excellent post up on Startup Stock Options titled Vesting ...
How School Curriculums Affect Your Business - Article written by Atma Global Founder March 12, 2021 ... Atma Global / How School Curriculums Affect Your Business - Article written by Atma Global Founder ... Having a workforce whose core foundational knowledge is inadequate and inconsistent affects how businesses communicate, ... Considering Culture for Global Growth with Sanjyot P. Dunung, Founder & CEO, Atma Global ...
This episode explores the trials and tribulations of managing expectations as a founder. ... Joe is a founder who knows what he wants. And this conversation flags the trials and tribulations that a $500,000 risk to hire ... Joe is the founder of SalesX, a 3-time winner of the Best Sales Agency award at the US Search awards. ... Did he really need a co-founder, or could he find a key hire ready to step up? ...
Hawthorne Effect Founder and CEO Jodi Akin on VatorNews podcast A gig-economy approach to decentralized clinical trials means ... Nomad Health co-founder and CEO Alexi Nazem on VatorNews podcast Nomad Health is an online marketplace for healthcare jobs ... Bravely Co-Founder and President, Sarah Sheehan on VatorNews podcast A bottoms-up approach to giving every employee a voice ... AKASA co-founder and CEO Malinka Walaliyadde on VatorNews podcast Walaliyadde is a former partner at a16z, where he helped ...
The founder effect. As many DTC workplace issues have come to the forefront, the founders have been front and center as well. ... "I completely understand the perspective of the founders or co-founders trying to solve a problem that they themselves have. ... Some DTC founders have become synonymous with the brands they started. Tyler Haney of Outdoor Voices was seen as the face of ... In an article published by Inc., Outdoor Voices Haney spoke out about mistakes she made as a founder and what she would do ...
... ... The Spiderweb effect isnt about paid promotions or shallow connections. Its about fostering a community of genuine followers ... Monica, the head of a community at Upstream and the founder of The Chain in Miami, shares her extensive knowledge on community ... By employing the Spiderweb effect, Ogee went from being a relatively unknown beauty brand to boasting a following of 200,000 in ...
... 次全球將生產 100 台每件 Y-Split 都是獨一無二的上面標有從 1 到 100 的連續數字和 Suyang 的簽名 Cadmus 是一種非常特殊的 EFFECT AUDIO 線材這是一種使用材料考慮聲音平衡的產品 Cadmus Founders ... Effect Audio Signature 系列陣容中的特殊產品 係Suyang 的一個新的激情項目旨在提
One thing we really appreciate with JHS Effects founder Josh Scott is that he not only champions other effects brands on the ... JHS Pedals founder Josh Scott reveals whats on his pedalboard By Rob Laing ... Electro Harmonix unveils the 9 mini Pico effects pedals for its NYC DSP Series - with reworked old favourites and new designs ... Hear 7 affordable guitar effects pedals you should consider adding to your rig. ...
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  • Female founders secured just 2.4% of the total capital invested in startups in the US in 2021. (pitch.com)
  • Come celebrate this year's PRIDE live with THE LAVENDER EFFECT Star-studded Live Virtual Pride Parade which will be broadcast on Sunday, May 30, 2021 at 12 noon PST/3p EST via YouTube.com/c/TheLavenderEffect . (broadwayworld.com)
  • In genetics, a founder mutation is a mutation that appears in the DNA of one or more individuals which are founders of a distinct population. (wikipedia.org)
  • Any organism-from a simple virus to something complex like a mammal-whose progeny carry its mutation has the potential to express the founder effect, for instance a goat or a human. (wikipedia.org)
  • This study assesses the possibility of a founder mutation for Pendred syndrome in northwest Iran. (nih.gov)
  • The results of haplotype analysis showed that all 15 patients from four families shared the founder mutation. (nih.gov)
  • Based on the results of our two studies, the c.965insA mutation has only been described in Iranian families from northwest Iran, so there is evidence for a founder mutation originating in this part of Iran. (nih.gov)
  • What is Share Vesting and how does it affect me as a Founder? (wevestr.com)
  • If you're a startup founder, there's a good chance you've heard of vesting. (wevestr.com)
  • In short, vesting is a way to ensure that founders and employees don't walk away with all the company's shares when they leave. (wevestr.com)
  • Founders who understand share vesting can use it to their advantage, and we hope this post will give you the information you need to make the best decision for your company. (wevestr.com)
  • Vesting is the process by which employees or founders earn the right to own shares in a company over time. (wevestr.com)
  • Vested shares are shares that an employee or founder has earned the right to own, typically through a vesting agreement. (wevestr.com)
  • Vesting is a way to ensure that employees and founders are invested in the long-term success of the company. (wevestr.com)
  • Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. (lu.se)
  • Assuming unrelated pedigree founders, Pedigree F is the expected proportion of GWIBD given a specific inbreeding constellation. (nature.com)
  • Meiotic recombination introduces variation around that expectation (Mendelian noise) and related pedigree founders systematically bias Pedigree F downward. (nature.com)
  • Background inbreeding resulting from relatedness between pedigree founders introduces both random noise and bias into the relationship between GWIBD and Pedigree F. If Background F is absent and the relation between fitness and GWIBD is linear, both Pedigree F and GWIBD are error-free predictors in fitness-inbreeding regressions and consequently the regression slopes are unbiased. (nature.com)
  • Besides minimizing neutral hereditary variability, the founder effect can in principle shift additive genetic variation for phenotypes that underlie fitness. (guyhowto.com)
  • Because many of the triggers for episodes of hereditary neuralgic amyotrophy also affect the immune system, researchers believe that an autoimmune reaction may be involved in this disorder. (medlineplus.gov)
  • Here are my thoughts on how the startup landscape will evolve, and how female founders can invest in themselves - with or without the industry's support. (pitch.com)
  • Entrepreneurial transitions: Factors influencing founder departure. (concordia.ca)
  • Research question: How does entrepreneurial experience affect an entrepreneur's decision-making process when choosing co-founder(s), and does it influence what. (lu.se)
  • Conclusion: Entrepreneurial experience affect the decision making when selecting co-founders by habitual entrepreneurs (1) showing better understanding of when to evoke the right knowledge, (2) use causal reasoning to a greater extent than the novice who use more effectuation, (3) focus on the needs of the venture in terms of competencies and identifying individuals having these competencies more than novice. (lu.se)
  • In population genetics, the founder effect is the loss of genetic variation that occurs when a new population is established by a very small number of individuals from a larger population. (wikipedia.org)
  • Divine Knockout: Founder's Edition, Mass Effect Legendary Edition, Biomutant. (n4g.com)
  • Most founding events involve a reduction in population size, which in turn causes genetic drift effects that can diminish alleles. (guyhowto.com)
  • Because males usually have no paired allele to offset the effects of most alleles on the X chromosome, the X chromosome allele is expressed in males even if the trait is recessive. (msdmanuals.com)
  • The three smaller founder populations show that one or the other color may predominate (founder effect), due to random sampling of the original population. (wikipedia.org)
  • So, these small populations are different from main populations and this is due to these colonizers or founders. (guyhowto.com)
  • Mutations and random allele modifications in small populations are collectively called genetic drift, and the founder effect is a piece of genetic drift. (guyhowto.com)
  • As a result, populations of founder species are especially sensitive to habitat and ecological modifications, and genetic diseases. (guyhowto.com)
  • We can see some interesting examples of this founder effect in human populations. (guyhowto.com)
  • The founder effect is a widely known cause of differentiation between populations that span a country mile. (guyhowto.com)
  • This is known as the serial founder effect if the specific populations spread over a geographical range do not interbreed. (guyhowto.com)
  • In certain populations, the percentage of heterozygotes (carriers) is high because of a founder effect (ie, the group started with few members, one of whom was a carrier) or because carriers have a selective advantage (eg, heterozygosity for sickle cell trait protects against malaria). (msdmanuals.com)
  • This paper focuses on the impact of founder transitions in initial public offering firms. (concordia.ca)
  • In addition, within three years after the IPO, when a founder moves to a non-CEO role on the top management team or the board, the firms are less likely to face a lawsuit. (concordia.ca)
  • In the US, female-led VC firms like Rethink Impact and Fabric are also driving funds toward female founders. (pitch.com)
  • Women made up 38% of executives at firms with at least one female founder - 2.4 times the average at start-ups with no female founders. (latimes.com)
  • To investigate the possibility of a founder effect in these four families, we conducted haplotype analysis, and 14 single nucleotide polymorphisms (SNPs) throughout the SLC26A4 gene were genotyped. (nih.gov)
  • Duplication of genetic material within the SEPTIN9 gene has also been identified in affected individuals. (medlineplus.gov)
  • ie, both heterozygotes and homozygotes for the abnormal gene are affected. (msdmanuals.com)
  • An unaffected (phenotypically normal) person with unaffected parents but affected siblings has a 66% chance of being a carrier of the abnormal gene. (msdmanuals.com)
  • Wealth and the effects of founder management among IPO stage new ventures. (concordia.ca)
  • Purpose: Investigate how experience in entrepreneurship influences the decision process and what the entrepreneur values in a co-founder when initiating a new venture showcased by examining differences between novice and habitual entrepreneurs. (lu.se)
  • The second part of the research question, about values when selecting co-founder(s), differ from experience in (1) habitual entrepreneurs focus on resource dependency over interpersonal attraction compared to novice entrepreneurs, (2) closeness in relationships with their co-founders where the novice entrepreneurs have more close relationships than the habitual entrepreneurs for co-founders. (lu.se)
  • Bi-allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the "AP4 deficiency syndrome . (bvsalud.org)
  • In addition to founder effects, the new population is often very small, so it shows increased sensitivity to genetic drift, an increase in inbreeding, and relatively low genetic variation. (wikipedia.org)
  • The founder effect is a type of genetic drift, occurring when a small group in a population splinters off from the original population and forms a new one. (wikipedia.org)
  • IAIS Secretary General, Jonathan Dixon, then highlighted the work the IAIS has done on key strategic themes affecting the global insurance sector and the broader financial system. (iaisweb.org)
  • There seems to be a much broader effect than just depression symptoms," Tara Thiagarajan, PhD, founder and chief scientist of Sapien Labs and co-author of the report, told Medscape Medical News . (medscape.com)
  • Our aim was to celebrate female and nonbinary founders, and call on investors to deliver them a greater share of capital. (pitch.com)
  • Last year, during the height of the COVID-19 pandemic and lockdowns, THE LAVENDER EFFECT hosted the first 'Virtual Pride Parade' to celebrate Pride and bring the LGBTQ+ community together. (broadwayworld.com)
  • They gave employees and customers something to believe in - whether it be a female founder, a powerful brand message or radical transparency - and then they disappointed. (retaildive.com)
  • More investors want to see revenue, resilience, and runway - and female founders' greater command of business fundamentals can play to their advantage. (pitch.com)
  • Their first partnership is with Fund F , a €20M fund for female founders set up by the Austrian VC firm Female Founders . (pitch.com)
  • I've said it before , but making an effort to meet industry leaders, get good intros, and network with other like-minded female founders is so important. (pitch.com)
  • If investors were looking at the data, they'd be doling out money to female founders left and right. (pitch.com)
  • Start-ups with at least one female founder wind up building companies where nearly half the staff are women, a new study finds. (latimes.com)
  • The study also examined the effect of female tech founders on leadership and engineering teams. (latimes.com)
  • Does Being The First Full-Time Paid Employee Affect That Founder's Equity In The Company? (venturedeals.com)
  • The question is, does being the first full-time paid employee affect that founder's equity in the company? (venturedeals.com)
  • Founder mutations initiate with changes that occur in the DNA and can be passed down to other generations. (wikipedia.org)
  • Why Founder Effect occur? (guyhowto.com)
  • Huawei isn't going away just because the US government has tried to ban it from its markets, company founder Ren Zhengfei has said, declaring that the Trump administration "underestimates our strength. (rt.com)
  • Huawei's 5G will absolutely not be affected " by the Commerce Department's ban on selling or transferring US technology to the company, Ren told Chinese state media. (rt.com)
  • Bailey Parnell is the Founder & CEO of SkillsCamp, a soft skills training company, and was named one of Canada's Top 100 Most Powerful Women. (apple.com)
  • Question: I am one of three founders of a company. (venturedeals.com)
  • While the founder who is working full time for the company is getting paid and the other founders are not, the other founders presumably are still getting paid from the day jobs. (venturedeals.com)
  • Now, the full time founder could make the argument that he should get more equity since he's working full time for the company but the other two founders aren't. (venturedeals.com)
  • This is a stronger argument if the founder working for the company isn't drawing a salary. (venturedeals.com)
  • Vend founder Vaughan Fergusson began his company with a single customer - a clothing store in Remuera, but it was enough to gain the attention of early backer Sam Morgan. (nzherald.co.nz)
  • , KIRREL3 and CNTNAP2 ) affecting autism-associated genes. (nature.com)
  • Jennifer Mounce, SPHR, is the founder of Coach Effect , a leadership coaching & organizational development boutique. (selfgrowth.com)
  • Coach Effect is a premier leadership and organizational effectiveness firm dedicated to making a sustainable positive impact in each and every workplace we touch. (selfgrowth.com)
  • That's what you can expect from Coach Effect. (selfgrowth.com)
  • Breeding experiments that use an outbred strain are more likely to suffer from founder effects. (biofortified.org)
  • I don't even know anything about Divine Knockout, but Mass Effect and Biomutant already make this a great month. (n4g.com)
  • Just seen we get all three Mass Effect games and over 40 DLCs thrown in! (n4g.com)
  • Even if I don't end up playing much of Divine Knockout, Mass Effect and Biomutant are definitely wins. (n4g.com)
  • On second thought I think ill download it and still buy it physical i just wont open mass effect. (n4g.com)
  • Not bad, Mass effect LE for those who haven't played it is genuinely a 10/10 game, favourite Sci-Fi series in gaming. (n4g.com)
  • Replaying mass effect immediately. (n4g.com)
  • So, in a last-minute decision, he brought him in to be a co-founder of the business. (peer-effect.com)
  • The business was moving forward and Sean and other co-founder Amar had big plans. (peer-effect.com)
  • 4. Fetal/early life exposures and long-term effects. (cdc.gov)
  • One particular incident involves Curve Finance , Aave , and the accumulation of debt by Curve's founder, Michael Egorov. (coin360.com)
  • The controversy began when Gauntlet, a risk and simulation platform, proposed a patch to prevent an account associated with Curve's founder, Michael Egorov, from accumulating further debt in the Aave v2 protocol. (coin360.com)
  • We examine transitions where the founder remains as CEO, stays in the top management team or on the board of directors, or is not in the firm anymore. (concordia.ca)
  • After three years, however, having the founder remain as CEO will be associated with a higher failure rate compared to having the founder leave the firm. (concordia.ca)
  • The mediating effect of spin-out team size and tenure on the founder firm performance relationship. (bvsalud.org)
  • This change in the functioning of septin proteins seems to particularly affect the network of nerves controlling movement and sensation in the shoulders and arms (brachial plexus), but the reason for this is unknown. (medlineplus.gov)
  • In humans, who have a slow reproduction rate, the population will remain small for many generations, effectively amplifying the drift effect generation after generation until the population reaches a certain size. (wikipedia.org)
  • The founder effect can still be seen generations later on. (guyhowto.com)
  • When you are starting as a founder, you want to keep your expenses low. (wevestr.com)
  • Usually in these kinds of situations, the comp being paid is (or should be) modest - just enough so the full time founder can cover his basic living expenses. (venturedeals.com)
  • In general, transplantation yields the best results when performed early in the course of the disease (ie, in an asymptomatic affected sibling of a child with a lysosomal storage disorder), in centers with experience in performing transplantations to treat inherited metabolic disorders, and in patients healthy enough to tolerate the conditioning and transplantation regimen. (medscape.com)
  • If unaffected (phenotypically normal) parents have an affected child, both parents are heterozygotes. (msdmanuals.com)
  • Joe is the founder of SalesX , a 3-time winner of the Best Sales Agency award at the US Search awards. (peer-effect.com)
  • I've spent 10 years as an artist, maker, and marketer, and currently spend most of my time as the Founder and CEO of Happening Hands, a membership community for makers where we help them grow thriving, profitable businesses. (tunein.com)
  • The founder effect can be due to geographic isolation when a small population of individuals migrates to a new location. (guyhowto.com)
  • Dr Alex Tournier, founder of HRI, discusses nano particles as a way of describing the mechanism of action, the biological effect of ultra dilutions in Homeopathy. (bvs.br)
  • Methodology: Qualitative multiple-case study with specified sample and semi-structured interviews about the founder's decision-making regarding co-founders. (lu.se)
  • The Sasakawa Health Prize Committee, having considered the decision, agreed to revise its Statutes to the effect that the Prize Committee would be replaced by a Prize Selection Panel, composed of the Chairman of the Executive Board, a member of the Board and the representative of the Founder. (who.int)
  • How many of those women founders are white women," she asked. (latimes.com)
  • Both dependencies are affected by noise components that will introduce random error in the predictors (Marker IBD or Marker IBS) used in heterozygosity-fitness regressions. (nature.com)
  • All children of an affected parent and a parent who is not a carrier are unaffected heterozygotes. (msdmanuals.com)
  • In this study, we performed comprehensive clinical and genetic evaluations in two unrelated families from northwest Iran with nine members affected by hearing loss (HL). (nih.gov)
  • Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families. (bvsalud.org)
  • We construct a shared single- nucleotide polymorphism (SNP) haplotype around AP4M1 in four families and suggest a probable founder effect of Arg338* AP4M1 variant with a common ancestor most likely of Turkish origin. (bvsalud.org)
  • With increasing use in clinical and public health practices, molecular genetic testing affects persons and their families in every life stage by contributing to disease diagnosis, prediction of future disease risk, optimization of treatment, prevention of adverse drug response, and health assessment and management. (cdc.gov)
  • It also indicates that more knowledge about how multiple genetic hits affect neuronal function will be necessary to fully understand the genetic architecture of autism. (nature.com)
  • The theory remains that the population on the islands is under the influence of the founder effect. (guyhowto.com)
  • How do the clothes we wear influence our behavior and affect cognitive processes? (womenworld.eu)
  • Cyber-risk expert and CEO of Field Effect, Matt Holland joined us to share his perspective on this growing threat and the importance of effective cyber risk prevention and hygiene for cyber resilience. (iaisweb.org)
  • In extreme cases, the founder effect is thought to lead to the speciation and subsequent evolution of new species. (wikipedia.org)
  • In some cases, the founder effect contributes to the development of new species. (guyhowto.com)
  • The founder effect occurs when a small group of migrants-not genetically representative of the population from which they came-establish in a new area. (wikipedia.org)
  • When a newly formed colony is small, its founders can strongly affect the population's genetic makeup far into the future. (wikipedia.org)
  • Financial performance of founder-managed versus professionally managed small corporations. (concordia.ca)
  • The founder effect is due to the randomness that accompanies selecting a small group from a larger population. (guyhowto.com)
  • Brands, big or small, can harness the power of the Spiderweb effect. (niftybridge.io)