α珠蛋白基因新突变复合α地中海贫血家系的基因分析及产前诊断OACSTPCD
Genetic analysis and prenatal diagnosis of a family with novelα-globin gene mutation complicated withα-thalassemia
目的：对一个α珠蛋白基因新突变复合α地中海贫血的家系进行基因分析和产前诊断。方法采集家系成员的外周血标本进行血红蛋白毛细管电泳和红细胞参数的分析，应用 gap-PCR、PCR-RDB和DNA测序方法对外周血和绒毛标本DNA进行α珠蛋白基因的鉴定。结果检测到的α珠蛋白基因基因型为母亲--／αCSα突变，父亲--／αα复合HbA2：c.52G＞T （p.Val17Phe）突变，绒毛标本提示胎儿的基因型为αCSα／αα复合HbA2：c.52G＞T突变。…查看全部>>
Objective To perform genetic analysis and prenatal diagnosis of a family with novel α-globin gene mutation complicated with α-thalassemia. Methods Peripheral blood sample was collected from the family members for hemoglobin electrophoresis and red blood cell (RBC)analysis. Gap-PCR,PCR-RDB and DNA sequencing were utilized to detectα-globin gene mutation in the peripheral blood and villi samples.Results The genotype of α-globin gene of the father was --/ααcomp…查看全部>>
王继成;杜丽;秦丹卿
511442 广州，广东省妇幼保健院医学遗传中心 妇幼代谢与遗传病重点实验室511442 广州，广东省妇幼保健院医学遗传中心 妇幼代谢与遗传病重点实验室511442 广州，广东省妇幼保健院医学遗传中心 妇幼代谢与遗传病重点实验室
α-地中海贫血点突变α珠蛋白基因
α-thalassemiaPoint mutationα-globin gene
《新医学》 2016 (7)
490-492,3
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