β-地中海贫血合并δ β-地中海贫血一个家系的产前诊断

目的对1例β-地中海贫血合并δβ-地中海贫血的家系进行产前诊断。方法用PCR-反向点杂交和长链PCR技术对胎儿进行产前基因诊断。结果母亲为β-珠蛋白基因密码子41/42（？TTCT）突变杂合子,父亲为缺失型Gγ＋（Aγδβ）0突变杂合子,胎儿基因型正常。结论对一个家系中出现重型β-地中海贫血患者,但用常规方法只能找到一个基因突变时,应考虑缺失突变的可能,并用合适的方法验证,然后才能产前诊断。

Prenatal diagnosis of a case at - risk for compound heterozygotes of δ β - thalassemia and β- thalassemia in a Chi nese family

Objective：To perform prenatal diagnosis in a pregnancy with a fetus at-risk for δ β-thalassemia and β-thalassemia.Methods：PCR-reverse dot blot and long-range PCR methods were used to determine the genotype in the at-risk fetus.Results：The mother was revealed to be a heterozygote for the codons 41-42（-TTCT） mutation,the father a heterozygote for Gγ＋（Aγ δ β）0 mutation and the fetus a normal.Conclusions：For those who present a severe β-thalassemia but only one mutation is identified,a deletional β-thalassemia should be suspected with a appropriate diagnostic test to confirm it.