血红蛋白Arya家系的遗传学特征分析  

Genealogical analysis of inherited characteristics in a hemoglobin Arya family

作　　者：刘江华[1,2] 姚秀云[1,2] 张渝美[3] 于洁[1,2] 

机构地区：[1]重庆医科大学附属儿童医院血液肿瘤科,重庆400014 [2]重庆医科大学附属儿童医院儿童发育疾病研究教育部重点实验室/儿科学重庆市重点实验室/重庆市儿童发育重大疾病诊治与预防国际科技合作基地,重庆400014 [3]重庆医科大学附属儿童医院检验科,重庆400014

出　　处：《临床检验杂志》2014年第2期140-143,共4页Chinese Journal of Clinical Laboratory Science

基　　金：重庆市卫生局医学科学技术研究重点资助项目(2010-1-42)

摘　　要：目的探讨1例血红蛋白Arya(Hb Arya)家系的遗传学特征。方法用全自动血液分析仪检测先证者及其家系成员红细胞参数;醋酸纤维素薄膜电泳、胎儿血红蛋白(HbF)碱变性试验结合高效液相色谱分析(HPLC)技术检测Hb组分;裂口PCR(Gap-PCR)及PCR-反向点杂交技术(PCR-RDB)检测中国人群中常见的地中海贫血基因突变类型;用珠蛋白基因测序明确突变位点。结果先证者及其家系成员红细胞参数均正常,均未检出中国人群常见的地中海贫血基因突变类型;先证者及其祖母、父亲、叔父Hb电泳出现异常慢速带,分别占Hb总量的16.3%、14.5%、17.6%和14.1%;HPLC分析显示在滞留时间为4.34 min时出现异常峰,异常峰面积占总面积的比例分别为16.9%,14.8%,18.2%和15.6%;珠蛋白基因测序显示,先证者及其祖母、父亲、叔父α1珠蛋白基因第47位密码子GAC>AAC且均为杂合突变。结论先证者及其祖母、父亲、叔父为Hb Arya杂合子,该变异不引起明显临床症状。Objective：To explore the inherited characteristics of a hemoglobin （Hb） Arya family. Methods：The red blood cell （RBC） parameters of the proband and his family members were detected by automatic hemocyte analyzer. Hemoglobin components were analyzed by using cellulose acetate electrophoresis and fetal hemoglobin alkali denaturation test combined with high performance liquid chromatography （HPLC）. The common thalassemia gene mutations in Chinese population were examined by Gap-PCR and PCR reverse dot blot （PCR-RDB）. The location of the mutation was confirmed by globin gene sequencing. Results：The RBC parameters of the proband and his family members were in normal range and all the common thalassemia gene mutations in Chinese population were undetectable. The proband and grandmother, father and uncle presented an abnormal slow band of Hb on cellulose acetate electrophoresis which accounted for 16.3%, 14.5%, 17.6% and 14.1% of the total hemoglobin, respectively. HPLC analysis indicated an aberrant chromatographic peak at the 4.34 min of retention time presented in the chromatograms, and the ratios of area were 16.9%, 14.8%, 18.2% and 15.6% of the total peak area, respectively. Globin gene sequencing demonstrated the same heterozygous mutation of GAC〉AAC at codon 47 of α1-globin gene was found in the proband, his grandmother, father and uncle. Conclusion：The proband and his grandmother, father, uncle should be Hb Arya heterozygote. The genetic alterations does not cause obvious clinical manifestation and abnormality of RBC parameter.

关 键 词：血红蛋白Arya 突变 珠蛋白基因 家系分析 

分 类 号：R555[医药卫生—血液循环系统疾病]