中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2014年
4期
518-521
,共4页
朱传福%张毅%聂向民%乔文本%宋永红%刘艳%庄云龙
硃傳福%張毅%聶嚮民%喬文本%宋永紅%劉豔%莊雲龍
주전복%장의%섭향민%교문본%송영홍%류염%장운룡
人类白细胞抗原%罕见等位基因%单倍型
人類白細胞抗原%罕見等位基因%單倍型
인류백세포항원%한견등위기인%단배형
Human leukocyte antigen%Rare allele%Haplotype
目的 确认常规HLA分型中检测到的17个罕见HLA等位基因,并推断其能关联的HLA单倍型.方法 采用双链直接测序和Luminex DNA杂交流式分型技术进行初次HLA分型和复核实验,采用单链测序进行罕见HLA等位基因确认实验.根据中国汉族人群HLA等位基因频率和单倍型频率资料,推断罕见HLA等位基因可能关联的HLA单倍型.结果 17个罕见HLA等位基因分型结果准确,推断可能关联的单倍型有18个,其中A* 11:12和DRB1*13:19分别于独立个体中检测到2次.结论 17个罕见基因确认无误,可能关联单倍型有18种.本研究可以为临床骨髓移植、HLA配型提供参考,同时丰富了本地区HLA多态性的研究资料.
目的 確認常規HLA分型中檢測到的17箇罕見HLA等位基因,併推斷其能關聯的HLA單倍型.方法 採用雙鏈直接測序和Luminex DNA雜交流式分型技術進行初次HLA分型和複覈實驗,採用單鏈測序進行罕見HLA等位基因確認實驗.根據中國漢族人群HLA等位基因頻率和單倍型頻率資料,推斷罕見HLA等位基因可能關聯的HLA單倍型.結果 17箇罕見HLA等位基因分型結果準確,推斷可能關聯的單倍型有18箇,其中A* 11:12和DRB1*13:19分彆于獨立箇體中檢測到2次.結論 17箇罕見基因確認無誤,可能關聯單倍型有18種.本研究可以為臨床骨髓移植、HLA配型提供參攷,同時豐富瞭本地區HLA多態性的研究資料.
목적 학인상규HLA분형중검측도적17개한견HLA등위기인,병추단기능관련적HLA단배형.방법 채용쌍련직접측서화Luminex DNA잡교류식분형기술진행초차HLA분형화복핵실험,채용단련측서진행한견HLA등위기인학인실험.근거중국한족인군HLA등위기인빈솔화단배형빈솔자료,추단한견HLA등위기인가능관련적HLA단배형.결과 17개한견HLA등위기인분형결과준학,추단가능관련적단배형유18개,기중A* 11:12화DRB1*13:19분별우독립개체중검측도2차.결론 17개한견기인학인무오,가능관련단배형유18충.본연구가이위림상골수이식、HLA배형제공삼고,동시봉부료본지구HLA다태성적연구자료.
Objective To confirm 17 rare HLA alleles detected during routine HLA typing and deduce their haplotypes.Methods Bi-allelic sequence-based typing and Luminex DNA PCR-SSOP assay were applied for the initial or repeat HLA typing,respectively.The rare HLA alleles were confirmed with mono-allelic sequence-based typing.Predicted haplotypes of the rare alleles were inferred based on the frequencies of HLA alleles and haplotypes in Han population.Results The authenticity of the total 17 rare HLA alleles was proven,and 18 predicted haplotypes associated with the rare alleles were recognized.A * 11:12 and DRB1 * 13:19 were detected twice among unrelated individuals.Conclusion Study of rare HLA alleles and predicted haplotype can provide useful information for donor searching and transplantation,and enrich polymorphisms of HLA in this population.
