Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.
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Combined factor V-factor VIII deficiency (F5F8D) is a rare, autosomal recessive coagulation disorder in which the levels of both coagulation factors V and VIII are diminished. The F5F8D locus was previously mapped to a 1-cM interval on chromosome 18q21. Mutations in a candidate gene in this region, ERGIC-53, were recently found to be associated with the coagulation defect in nine Jewish families. We performed single-strand conformation and sequence analysis of the ERGIC-53 gene in 35 F5F8D families of different ethnic origins. We identified 13 distinct mutations accounting for 52 of 70 mutant alleles. These were 3 splice site mutations, 6 insertions and deletions resulting in translational frameshifts, 3 nonsense codons, and elimination of the translation initiation codon. These mutations are predicted to result in synthesis of either a truncated protein product or no protein at all. This study revealed that F5F8D shows extensive allelic heterogeneity and all ERGIC-53 mutations resulting in F5F8D are "null." Approximately 26% of the mutations have not been identified, suggesting that lesions in regulatory elements or severe abnormalities within the introns may be responsible for the disease in these individuals. In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci. (+info)
Effect of breastfeeding education on the feeding pattern and health of infants in their first 4 months in the Islamic Republic of Iran.
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This quasi-experimental study was conducted in Shiraz, the Islamic Republic of Iran, on 120 pairs of mothers and infants in a maternity hospital that had a rooming-in programme. All 59 mothers in the study group received breastfeeding education, face-to-face, after delivery and during follow-up for 4 months in the mother and child health (MCH) centre or in their homes; the remaining 61 mothers comprised the control group. Exclusive breastfeeding rates were significantly higher in the study group (54%) than in the control group (6.5%), but 5% and 18% of infants, respectively, in the study and control groups had stopped breastfeeding by the age of 4 months. The mean number of days of diarrhoea experienced by infants in the study group were significantly lower (P < or = 0.004) than in the control group. At the end of 4 months, the mean weight and length of the infants were significantly higher (both P < 0.05) in the study group than in the control group. The findings indicate that rooming-in is very important for promoting exclusive breastfeeding and that there is a need for continuous breastfeeding education of mothers. (+info)
HLA antigens in Iranian patients with B-cell chronic lymphocytic leukemia.
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The frequency of HLA class-I and class-II antigens was investigated in 32 Iranian patients with B-cell chronic lymphocytic leukemia (B-CLL), using the microlymphocytotoxicity method. A significant increase in the HLA-B13 (P<0.01) and DR53 (P < 0.05) and a significant negative association with the A11 (P < 0.05), B35 (P < 0. 05), Cw3 (P < 0.05), and DR1 (P < 0.02) antigens were observed in these patients, compared to the control normal population. These results suggest involvement of some HLA antigens in the multifactorial process of predisposition to B-CLL. (+info)
Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
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Joubert syndrome is a rare developmental defect of the cerebellar vermis, with autosomal recessive inheritance. The phenotype is highly variable and may include episodic hyperpnea, abnormal eye movements, hypotonia, ataxia, developmental delay, and mental retardation. Even within sibships the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of Joubert syndrome. To genetically localize the gene region, we have performed a whole-genome scan in two consanguineous families of Arabian/Iranian origins, with multiple affected probands. In one family, we detected linkage to the telomeric region of chromosome 9q, close to the marker D9S158, with a multipoint LOD score of Z=+3.7. The second family did not show linkage to this region, giving a first indication of genetic heterogeneity underlying Joubert syndrome. These findings were supported by subsequent analysis of two smaller families-one compatible with linkage to 9q; the other, unlinked. We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q. (+info)
Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion.
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Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. Although several mutations in the fibrinogen genes associated with dysfibrinogenemia and hypofibrinogenemia have been described, the genetic defects of congenital afibrinogenemia are largely unknown, except for a recently reported 11-kb deletion of the fibrinogen Aalpha-chain gene. Nevertheless, mutation mechanisms other than the deletion of a fibrinogen gene are likely to exist because patients with afibrinogenemia showing no gross alteration within the fibrinogen cluster have been reported. We tested this hypothesis by studying the affected members of two families, one Italian and one Iranian, who had no evidence of large deletions in the fibrinogen genes. Sequencing of the fibrinogen genes in the 2 probands detected 2 different homozygous missense mutations in exons 7 and 8 of the Bbeta-chain gene, leading to amino acid substitutions Leu353Arg and Gly400Asp, respectively. Transient transfection experiments with plasmids expressing wild-type and mutant fibrinogens demonstrated that the presence of either mutation was sufficient to abolish fibrinogen secretion. These findings demonstrated that missense mutations in the Bbeta fibrinogen gene could cause congenital afibrinogenemia by impairing fibrinogen secretion. (Blood. 2000;95:1336-1341) (+info)
Evaluation of workers' exposure to dust, ammonia and endotoxin in poultry industries at the province of Isfahan, Iran.
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This study was conducted to assess various environmental exposure measurements (total dust, ammonia and endotoxin) of poultry workers at the province of Isfahan, Iran. The results show that the workers who worked in enclosed systems of parent stock barns have the highest exposure to total and respirable dust: 21.3 +/- 3.2 and 4.6 +/- 0.9 mg/m3, respectively. In comparison with different ages of chicken, the highest concentration of total and respirable dust were 5.4 +/- 0.7 and 3.3 +/- 0.7 mg/m3 in the 45th day. In the above mentioned situation, the results of endotoxin concentrations were 20.6 +/- 1.1, 23.6 +/- 2.2, 21.3 +/- 1.2 and 26.8 +/- 1.8 ng/m3, respectively. Ammonia concentrations had the highest rate in enclosed systems of laying hens in winter and the 45th day of chicken age, measuring 33.2 +/- 5.2 and 20.2 +/- 3.0 mg/m3, respectively. (+info)
Glucose-6-phosphate dehydrogenase deficiency in Kuwait, Syria, Egypt, Iran, Jordan and Lebanon.
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A total of 3,501 male subjects from six Arab countries living in Kuwait were investigated for quantitative and phenotypic distribution of red cell glucose-6-phosphate dehydrogenase (G6PD). The ethnic origins of those investigated were Kuwait, Egypt, Iran, Syria, Lebanon and Jordan. The distribution of G6PD deficiency among the different ethnic groups varied widely, ranging from 1.00% for Egyptians to 11.55% for Iranians. The activity of the normal enzyme was remarkably similar, with values ranging from 6.1 +/- 0.8 to 6.5 +/- 1.1 IU/g Hb. A low frequency of the Gd(A) allele was found in two ethnic groups, Egyptians (0.019) and Iranians (0.014). Gd(A-) was present at the very low frequency of 0.006 in another two ethnic groups, Kuwaitis and Jordanians. (+info)
Isolation rates of Streptococcus pyogenes in patients with acute pharyngotonsillitis and among healthy school children in Iran.
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We examined three populations from the Tehran region and the North part of Iran (Gilan), in all more than 5000 individuals, for carriage of Streptococcus pyogenes (group A streptococci; GAS). Children or adults with acute pharyngotonsillitis and healthy school children harboured GAS in 34-1, 20.0 and 21.0%, respectively. Typing of 421 randomly selected isolates showed a predominance of M-types M4, M5, M11, M12, as well as the provisional type 4245; however, many of the isolates were T and M non-typable. Forty-three percent of all strains were opacity factor (OF) negative. The type distribution differed markedly from that reported in 1973-4, when M types 1 and 12 were predominant. (+info)