摘要
目的研究南方汉族强直性脊柱炎(AS)患者及健康人群HLA-B27亚型等位基因的多态性和分布特点。方法采用HLA测序分型方法,对收集到的46份B*27阳性的南方汉族AS患者血样以及随机选择的80份经rS-SOHLA流式磁珠低分辨检测为B*27阳性的造血干细胞南方汉族捐献者血样,做HLA-B基因的第2—4外显子测序分型,测序反应产物用ABI PrismTM3730测序仪检测,Assign3.5分析软件分析结果。对检出的模棱两可结果及"罕见型"等位基因,辅以PCR-SSP法HLA-B27高分辨基因分型。结果46名南方汉族AS患者中,共检出4个HLA-B*27相关的等位基因:B*2704的检出比例最高,为82.98%(39/47);其次是B*2705,为12.77%(6/47);B*2707和B*2724各为2.13%(1/47)。80名南方汉族造血干细胞捐献者中,共检出7种B*27相关等位基因:以B*2704的检出比例最高,为57.32%(47/82);其次为是B*2705,为26.83%(22/82);B*2706和B*2707各为6.10%(5/82);B*2703、B*2715和B*2724各为1.22%(1/82)。结论南方汉族AS患者HLA-B*27基因中以B*2704最为常见,健康人群以B*2704和B*2705等位基因为主要亚型。
Objective To study the molecular polymorphism and the distribution of HLA-B ＊ 27 subtypes in southern Chinese Han patients with Ankylosing Spondylitis and healthy controls. Methods A total of 46 samples form southern Chi- nese Han patients with AS and 80 non-related blood samples from healthy peripheral blood stem cell donors with B＊ 27-pos- itive identified by rSSO Lumminex flow array assay were subjected to sequencing analysis of exon 2 , 3 and 4 of HLA-B gene by the sequence-based typing, the purified products of sequencing reaction were electrophoresed on ABI 3730 DNA sequen- cer and the designation of HLA-B＊ 27 allele was accomplished using the Assign3.5 software. The ambiguities and the detec- ted ＂rare＂ alleles were confirmed using the PCR-SSP commercial kit. Results In the 46 B＊27-positive patients with the diagnosis of AS, four alleles, namely B＊ 2704, B＊ 2705, B＊ 2707 and B＊ 2724 were determined. The frequencies for these four alleles were 82.98% （39/47）, 12.77% （6/47）, 2.13% （1/47） and 2.13% （ 1/47）, respectively. In the 80 B＊ 27- positive control individuals, seven B＊ 27 related alleles were identified. The frequency for the two dominant subtype B＊ 2704 and B＊ 2705 were 57.32% （47/82） and 26.83% （22/82）, respectively. Both the B＊ 2706 and B＊ 2707 were ob- served 5 times with a frequency of 6.10% （5/82）, three alleles B＊2703, B＊2715 and B＊2724 were detected only once with a frequency of 1.22% （1/82）. Conclusion Our study shows that HLA-B＊ 2704 and B＊ 2705 were the predominant subtypes in normal healthy controls, however, B＊ 2704 was the predominant subtype for the AS group in southern Chinese Han patients.
出处
《中国输血杂志》
CAS
CSCD
北大核心
2009年第9期722-725,共4页
Chinese Journal of Blood Transfusion
基金
深圳市科技计划资助项目(编号:200802116)
