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

Genetic analysis and prenatal diagnosis of a family with novel α-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gapPCR、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--/α^(CS)α突变,父亲--/αα复合Hb A2:c.52G>T(p.Val17Phe)突变,绒毛标本提示胎儿的基因型为α^(CS)α/αα复合Hb A2:c.52G>T突变。结论 Hb A2:c.52G>T是一种至今国内外未曾报道的新突变,而由其导致的异常血红蛋白可加重地中海贫血的临床症状。

Objective To perform genetic analysis and prenatal diagnosis of a family with novel ctglobingene mutation complicated with a-thalassemia. Methods Peripheral blood sample was collected fromthe family members for hemoglobin electrophoresis and red blood cell (RBC) analysis. Gap-PCR, PCR-RDBand DNA sequencing were utilized to detecta-globin gene mutation in the peripheral blood and villi samples.Results The genotype of a-globin gene of the father was --/a a complicated with HbA2 : c. 52 G > T( p. Vall7Phe) , and -- /a CSa for the mother. The villi specimen detected that the genotype of fetus was a CSa /a a complicated with HbA2 : c. 52G > T mutation. Conclusion HbA2 : c. 52G > T mutation has not been reported.Abnormal hemoglobin induced by HbA2 : c. 52G > T mutation can aggravate the clinical symptoms ofthalassemia.