1.Genotype polymorphism and its implications of mannose-binding protein allele in 5 Chinese nationalities
Hong SHI ; Fusheng WANG ; Lei JIN ; Mingxu LIU ; Weiguo HONG ; Qingyou DU ; Zhouyun LEI ; Jing HOU ; Ming SHI ; Lihe XING
Chinese Journal of Medical Genetics 2001;18(3):202-205
Objective To detect the genotypes and sequences of the exon 1 of human mannose-binding protein (MBP) allele in 5 Chinese nationalities. Methods The genotypes of MBP gene of 5 Chinese nationalities were detected by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). The exon 1 of the MBP gene of 22 Chinese Hans was analyzed by using ABI 310 genetic analyzer. Results The DNA sequences of exon 1 of Chinese MBP gene were acquired. The allele frequencies of the codon 54 of the MBP gene (MBP-54) of 5 Chinese nationalities were 0.181(Hans), 0.128(Uygurs), 0.181(Mongols), 0.179(Tibetans) and 0.181(Yis). The allele distribution for MBP-54 mutation of 5 Chinese nationalities was in good agreement with Hardy-Weinberg equilibrium. Compared with the Hans, Uygurs had a lower MBP-54 mutation rate. There were no differences in the allele frequencies between the chronic hepatitis B patients and health controls in Chinese Hans. The mutations of the codons 52 and 57 were not detected in this study. Conclusion A higher prevalence of MBP-54 mutation was found in 5 Chinese nationalities, MBP-54 mutation was not associated with the persistence of hepatitis B.
2.Genotypes and polymorphisms of mutant CCR5-△32,CCR2-64I and SDF1-3' A HIV-1 resistance alleles in indigenous Han Chinese
Fusheng WANG ; Lei JIN ; Zhouyun LEI ; Hong SHI ; Weiguo HONG ; Dongping XU ; Jiandong JIANG ; Yue WANG ; Bing ZHANG ; Mingxu LIU ; Yueqi LI
Chinese Medical Journal 2001;114(11):1162-1166
Objective To evaluate the frequencies and polymorphisms of CCR5-△32,CCR2-641 and SDF1-3'A alleles conferring resistance to HIV-1 infection in Chinese population from Han ethnic origin.Methods This cohort was comprised of 1251 subjects(915 men and 336 women)aged 15 -80 years and none was HIV-1 positive.Genotyping of allelic CCR5-△32,CCR2-641 and SDF1-3' A variants was performed using PCR or PCR/RFLP assay,and further confirmed by direct DNA sequencing.Results Our finding shows that the△32 deletion mutation in the CCR5 gene does occur in this population and can be inherited in a Mendelian fashion in indigenous Han Chinese at a very low frequency of 0.00119(n= 1254).The frequencies of mutant CCR2-641 and SDF1-3'A alleles were 0.20023(n = 1251)and 0.2873(n = 893),in this population,which are higher than those found in American Caucasians.Furthermore the polymorphisms of CCR2-641 and SDF1-3' A alleles in the Han Chinese population were different from those in American Caucasians.Statistical analysis showed that the genotype distribution of CCR5-△32,CCR2-641 and SDF1-3' A alleles was in equilibrium according to the Hardy-Weinberg equation.Conclusion The CCR5-△32 mutation may not be a major resistant factor against HIV-1 infection in indigenous Han Chinese.The significance of higher frequencies of CCR2-641 and SDF1-3' A alleles (0.20023 and 0.2791)in the Han population remains to be clarified in HIV-1-positive carriers and AIDS patients.