中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2011年
1期
99-102
,共4页
聂向民%张毅%房云海%宋永红%庄云龙%刘艳%朱传福
聶嚮民%張毅%房雲海%宋永紅%莊雲龍%劉豔%硃傳福
섭향민%장의%방운해%송영홍%장운룡%류염%주전복
人类白细胞抗原%测序%新等位基因%DRB1*1219等位基因
人類白細胞抗原%測序%新等位基因%DRB1*1219等位基因
인류백세포항원%측서%신등위기인%DRB1*1219등위기인
human leukocyte antigen%sequencing%novel allele%DRB1 * 1219 allele
目的 鉴定分析1个白血病患者家庭HLA-DRB1位点1个新等位基因.方法 应用PCR-序列特异性引物及Luminex DNA杂交流式分型技术进行HLA分型,发现1个与HLA-DRB1*120201相关的未知基因.应用DNA测序技术进行鉴定分析并与已知序列比对分析.结果 先证者DRB1位点有1个等位基因的核苷酸序列与所有已知基因序列均不相同,与同源性最高的DRB1*120201相比,第2外显子第341位核苷酸碱基发生了C→T,结果导致相应85位密码子编码的丙氨酸变为缬氨酸.结论 测序表明被测样本含有1个HLA-DRB1新等位基因,被世界卫生组织HLA因子命名委员会正式命名为HLA-DRB1*1219(序列号EJ374889).
目的 鑒定分析1箇白血病患者傢庭HLA-DRB1位點1箇新等位基因.方法 應用PCR-序列特異性引物及Luminex DNA雜交流式分型技術進行HLA分型,髮現1箇與HLA-DRB1*120201相關的未知基因.應用DNA測序技術進行鑒定分析併與已知序列比對分析.結果 先證者DRB1位點有1箇等位基因的覈苷痠序列與所有已知基因序列均不相同,與同源性最高的DRB1*120201相比,第2外顯子第341位覈苷痠堿基髮生瞭C→T,結果導緻相應85位密碼子編碼的丙氨痠變為纈氨痠.結論 測序錶明被測樣本含有1箇HLA-DRB1新等位基因,被世界衛生組織HLA因子命名委員會正式命名為HLA-DRB1*1219(序列號EJ374889).
목적 감정분석1개백혈병환자가정HLA-DRB1위점1개신등위기인.방법 응용PCR-서렬특이성인물급Luminex DNA잡교류식분형기술진행HLA분형,발현1개여HLA-DRB1*120201상관적미지기인.응용DNA측서기술진행감정분석병여이지서렬비대분석.결과 선증자DRB1위점유1개등위기인적핵감산서렬여소유이지기인서렬균불상동,여동원성최고적DRB1*120201상비,제2외현자제341위핵감산감기발생료C→T,결과도치상응85위밀마자편마적병안산변위힐안산.결론 측서표명피측양본함유1개HLA-DRB1신등위기인,피세계위생조직HLA인자명명위원회정식명명위HLA-DRB1*1219(서렬호EJ374889).
Objective To identify a novel HLA DRB1 allele in a Chinese leukemia family. Methods A new HLA-DRB1 allele was initially detected by polymerase chain reaction-sequence specific primer and unusual reaction pattern by Luminex RSSO, then DNA sequencing was performed to identify the sequence of the novel allele. Results The DNA sequencing revealed the presence of the new allele which differs from the closest macthing HLA- DRB1 * 120201 by a single nucleotide substitution at position (341 C→T in exon 2),resulting in an amino acid change from Ala to Val at coden 85. Conclusion A novel allele was confirmed by DNA sequencing and has been designated HLA-DRB1 * 1219 by the WHO Nomenclature Committee.
