The relationship between haplotypes of multilocus markers and ankylosing spondylitis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between haplotypes of multilocus markers and ankylosing spondylitis (AS).</p><p><b>METHODS</b>Five families with AS were recruited from Shanghai area. Eleven microsatellite markers around D6S276 were analyzed by Linkage package and by Cyrillic package.</p><p><b>RESULTS</b>Fine linkage analysis showed the significant Lod score values with D6S276 was 3.8821, Lod score values with D6S1691 and D6S1618 near D6S276 were larger than 1.5. The crossover value in 5 pedigrees was 14%. The haplotype analysis showed that the regions between D6S1691 and D6S1618 were associated with AS.</p><p><b>CONCLUSION</b>The regions of D6S1691-D6S276-D6S1618 may harbor a susceptible gene of AS. The specific haplotypes of different pedigrees may play an important role in the presymptomatic diagnosis for AS.</p>

Analysis on HLA-E polymorphism in Guangdong Han population / 中国实验血液学杂志

To investigate the distribution of HLA-E alleles and linkage between HLA-E and HLA-A or -B loci in Chinese Han in Guangdong area, HLA-E alleles were detected by using PCR-SSP in 150 unrelated healthy individuals from Guangzhou area; HLA-A, -B antigens typing in 106 individuals was carried out with NIH standard microlymphocytoxic method. Analysis of linkage was performed between HLA-E and HLA-A, -B. The results showed that three alleles of HLA-E could be detected in this population. They are E * 0101, E * 01031, E * 01032, with the frequency of 45.33%, 32.33%, 22.33% respectively. No E * 0102 and E * 0104 could be detected in all of these individuals. The analysis of linkage on two loci between HLA-E and HLA-A or -B showed that no significant difference could be found between expected frequencies and observed frequencies except B15/E * 01032 and A2/E * 01032. In conclusion, the high conservative polymorphism of HLA-E suggests that it's biological characteristic is different from that of classical HLA class Ia molecules.

Killer Ig-like receptor gene content diversity and haplotype analysis in Chinese Han population in Shanghai / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the diversity of killer Ig-like receptor(KIR) gene content and the combination of haplotypes in Chinese Han population in Shanghai area.</p><p><b>METHODS</b>DNA samples from 87 randomly unrelated healthy individuals in Shanghai Han population were genotyped with SSP/PCR method.</p><p><b>RESULTS</b>(1) Frequencies of KIR genes: All of 18 known KIRs genes, such as 2DL1-5, 2DS1-5, 3DL1-3, 3DS1, KIR1D and the pseudogenes X, Xv and Z(KIR2DP1) were observed in Shanghai Hans. All individuals contain 3DL3, 2DL4, 3DL2 and 3DL1; the most common genes were 2DL3, Z, 2DL1 and X; the following were 2DS4, 1D, 2DL5, 2DS1, 3DS1 and 2DS5; the next were 2DS2, 2DL2, 2DS3 and Xv. (2) Frequencies of KIR gene haplotypes; there were 13 haplotypes detected in 87 Han individuals, among them, the most frequent one was type 2 (haplotypeA-2DS4). (3) Frequencies of KIR genotypes: 18 kinds of the combinations of the haplotypes were observed; the most frequent ones were AJ(2,2), AF (1,2). Also, In this study were identified five new genotypes FZ1 2 9 , FZ2 1 16 , FZ3 6 17 , FZ4 4 13 and FZ5 2 6 ,which had not been observed in Caucasians so far.</p><p><b>CONCLUSION</b>These findings suggest that there are distinctive frequencies of KIR gene content, haplotype as well as genotype in Chinese Han population in Shanghai area.</p>

Genome-wide scanning for susceptibility genes in researches on six HLA-associated diseases / 中华医学遗传学杂志

Six human leucocytic antigen(HLA)-associated diseases, including ankylosing spondylitis, rheumatoid arthritis, multiple sclerosis, systemic lupus erythematosus, type 1 diabetes mellitus and psoriasis, were selected as objects of this review. The characteristics of these diseases in whole-genome scans on susceptibility genes or loci undertaken to date were analyzed and compared. Meanwhile, the potential proposals for dealing with the existing problems were put forward.

Analysis on polymorphism in exons 2,3 and 4 of the MICA gene in three different Chinese populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect genetic polymorphism in the exons 2 to 4 of the MICA gene in Chinese Han population in Shanghai, Dai population in Yunnan province and Uygur population in Xinjiang province respectively.</p><p><b>METHODS</b>DNA samples from 183 random healthy individuals in Han population, 41 in Dai population and 66 in Uygur population were genotyped by using the polymerase chain reaction (PCR) and sequence-specific oligonucleotide probing (SSOP) method.</p><p><b>RESULTS</b>In total, 10, 7 and 9 alleles of MICA were observed in Han, Dai and Uygur population respectively. MICA*008 was the most common allele in the population of both Han and Uygur, whereas MICA*010 was the most popular one in Dai population. Han and Dai had a bit similar distribution pattern (Chi-square=12.809 P=0.046), in contrast with Han to Uygur (Chi-square=58.499 P=0) and Dai to Uygur (Chi-square=49.273 P=0).</p><p><b>CONCLUSION</b>MICA gene displayed different allele distributions in different populations.</p>