摘要
目的分析6例异常血红蛋白K患者的基因型特征.方法对9 897例常规产检的孕妇行全自动毛细管电泳检测,检出的6例异常血红蛋白K患者进行23种常见地中海贫血基因检测及α、β-珠蛋白基因测序检测.结果 (1)1例杂合突变发生在α2链上,首次报道基因突变型为CD51 (GGC->TGC);(2)3例杂合突变发生在α1链上,基因突变型为Hb Hekinan II(GAG->GAT);(3)2例杂合突变发生在β链上,基因突变型分别为Hb Hope(GGT->GAT)和Hb New York(GTG->GAG).结论同一种异常血红蛋白病存在不同的基因型,且不同基因型临床表现不尽相同.
Objective To analyze the genotypic characteristics of 6 patients with Hb K. Methods 9897 pregnant women with routine prenatal test were detected by automatic capillary electrophoresis. 6 patients with Hb K were detected by 23 common thalassemia gene test and α, β-globin gene sequencing test. Results(1)One heterozygotic mutation occurred on alpha2 chain and the first reporter gene mutation was CD51(GGC-〉TGC);(2)Three heterozygotic mutation occurred on alpha1 chain and the gene mutation was Hb Hekinan II(GAG-〉GAT);(3)Two heterozygotic mutations occurred on beta chain and the gene mutations were Hb Hope(GGT-〉GAT)and Hb New York(GTG-〉GAG).Conclusion The same abnormal hemoglobinopathy may correspond to different genotypes and different genotypes hold different clinical manifestations.
作者
唐健
何建萍
罗胜军
吕梦欣
党峰博
罗兰
TANG Jian;HE Jian-ping;LUOSheng-jun;LVMeng-xin;DANG Feng-bo;LUO Lan(Lab of Genetics,Maternal and Child Health Hospital of Kunming,Kunming Yunnan 650031;Dept.of Cell Biology and Genetics,Kunming Medical University,Kunming Yunnan 650500,China)
出处
《昆明医科大学学报》
CAS
2018年第9期91-94,共4页
Journal of Kunming Medical University
基金
云南省科技厅-昆明医科大学应用基础研究联合专项基金资助项目(2018FZ002)