缺失型β-地中海贫血一个家系的产前诊断  

Prenatal diagnosis of a case at-risk for compound heterozygotes of SEA HPFH deletion and β-thalassemia in a Chinese family.

作　　者：谢杏梅[1] 钟惠珠[1] 李冬至[1] 

机构地区：[1]广州市妇婴医院优生围产研究所生化室,510180

出　　处：《中国优生与遗传杂志》2009年第1期36-36,15,共2页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例β-地中海贫血合并缺失型遗传性持续性胎儿血红蛋白(HPFH)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。结果父亲为β-基因CDs 41/42(-TTCT)杂合子,母亲为东南亚(SEA)缺失型HPFH,胎儿基因型为β-基因CDs 41/42(-TTCT)杂合子。结论在β-地中海贫血筛查中应考虑到缺失型HPFH,当它有可能与β-地中海贫血复合存在时,应进行产前诊断。Objective ： To perform prenatal diagnosis in a pregnancy with a fetus at - risk for SEA HPFH deletion 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 father was revealed to be a heterozygote for the codons 41 -42 （-TTCT） mutation, the mother a heterozygnte for SEA HPFH deletion and the fetus a heterozygote for the codons 41 -42 （ - TTCT） mutation. Conclusions： For pregnant women whose fetuses are at - risk for a compound heterozygote of SEA HPFH deletion and β - thalassemia, prenatal diagnosis should be done.

关 键 词：遗传性持续性胎儿血红蛋白 地中海贫血 基因型 

分 类 号：R714.5[医药卫生—妇产科学]