[Frequencies of CGT52TGT, GGC54GAC and GGA57GAA point mutations in MBL gene in Chinese Uyghur population].

OBJECTIVE: To investigate the frequencies of three point mutations, CGT52TGT, GGC54GAC and GGA57GAA, in exon 1 of mannan-binding lectin (MBL) structural gene in Chinese Uyghur population. METHODS: Blood samples were collected from a Uyghur population in Xinjiang Uyghur Autonomous Region, and the genomic DNA was extracted from the leucocytes and the target gene fragment amplified by PCR. The three point mutations in exon 1 of MBL gene were detected by fluorogenic probe hybridization technique with visual monitoring. RESULTS: In 95 Uyghur individuals, 2 were identified as homozygous for codon 54 mutations, 28 were heterozygous for codon 54 mutation, and no CGT52TGT and GGA57GAA point mutations were found. CONCLUSION: The frequencies of CGT52TGT, GGC54GAC and GGA57GAA mutant alleles in exon 1 of MBL structural gene are 0, 0.168 and 0 respectively in the Chinese Uyghur population.

[Epidemiological survey of HBsAg carriers in the Uighur and Han populations in the Khotan Area of Xinjiang autonomous region].

OBJECTIVE: To survey nonsymptomatic HBsAg carriers in the Uighur and Han populations in Khotan Area of Xinjiang Autonomous region. METHOD: HBsAg was detected using colloidal gold-labeled double antibody sandwich method. RESULTS: These investigations included 2 597 subjects consisting of 2 022 Uighur and 575 Han subjects. The total HBsAg carrier rate in the Uighur population was 1.48% (30/2 022), specifically 1.078% in male and 1.59% in female subjects. No significant differences were observed in the age between male and female HBsAg carriers, who had an average age of 35 years. In the Han population, the total HBsAg carrier rate was 6.09% (30/575), and was 5.6% in male and 4.4% in female subjects. The average age of the male carriers was 36.3 years and 27.6 years in the female carriers, which showed significant difference in respect to HBsAg carrier rate. The HBsAg carrier rate showed significant difference between Uighur and Han populations in Khotan Area (P<0.01). CONCLUSIONS: The HBsAg carrier rate in Uighur population in Khotan Area is consistent with that in areas with low HBV infection, whereas the Han population exhibit features similar to those in areas with moderately HBV prevalence in the inland regions. The low HBsAg carrier rate in Uighurs might be attributed to the their customs in diet, eating habit, local living environment and the difference in HLA gene distribution. The authors suppose that such antigens as HLA-Bw41 might be protective against HBV infection.

[Comparative investigation of the Rh blood type distribution between the Uygur and Han nationalities in the Khotan area of Xinjiang Autonomous Region].

OBJECTIVE: To investigate the Rh blood type distribution in the Uygur and Han nationalities in Khotan area of Xinjiang Autonomous Region, China, and compare the results with previous documentations on the Rh blood type in Uighurs. METHOD: Using epidemiological methods, an extensive survey was conducted for determination of the Rh blood type in 2,907 residents in the target area, including 2,251 Uighurs and 656 subjects of Han nationality. Positive definition method was used for the ABO blood typing while Rh blood type was determined serologically through saline medium method. At the same time, the Rh phenotypes were investigated in RhD-negative individuals. RESULTS: Altogether 106 RhD-negative individuals were identified, accounting for a rate of 4.71% in this cohort, with the D gene frequency of 0.217. The Rh phenotype of all RhD-negative cases were ccdee except for one that was ccdEe. When compared with the previous ABO blood type distribution data of the Uighurs in randomly chosen samples, B type in RhD-negative individuals was relatively higher while A and O types peared lower. CONCLUSION: The Rh blood type frequency is relatively higher in the Uighurs with unique Rh phenotypes.