You Position: Home > Paper
Prenatal Gene Diagnosis for High Risk Infant of Thalassemia
( views:284, downloads:17 )
- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF PERINATAL MEDICINE
- Issue:
- 4
- DOI:
- 10.3760/cma.j.issn.1007-9408.2002.04.004
- Key Word:
- 地中海贫血;产前诊断;杂合子;纯合子
Abstract： 目的探讨地中海贫血(简称地贫)高风险胎儿宫内基因诊断的价值.方法128例地中海贫血高风险胎儿于妊娠中期抽取羊水10～20 ml或脐血1 ml进行基因诊断.结果128例被检胎儿中基因正常32例,α地贫缺失杂合子38例,纯合子27例;β地贫单一突变杂合子18例,纯合子4例,双重杂合子9例;β地贫基因突变类型及频率依次为:CD 41-42(47.5%),IVS-Ⅱ-654(42.5%),CD 17(A-T)(7.5%)及-28(A-G)(2.5%).无一例发生严重母胎并发症,重型地贫胎儿40例均在知情同意前提下及时终止妊娠.结论筛查地贫高风险胎儿并及时进行产前基因诊断安全、有效、准确.在地贫高发区域,应作为常规产科检测方法.
- [1]张秀泉,李全贞,吴艳.α-地中海贫血的产前基因诊断[J].1998,(3).
- [2]Y L, Lau,L C, Chan,Y Y, Chan,etc.Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong -- implications for population screening.[J].1997,336.
- [3]杜传书.地中海贫血研究的现状与未来[J].1996,(5).
- [4]X, Xu,C, Liao,Z, Liu,etc.Antenatal screening and fetal diagnosis of beta-thalassemia in a Chinese population: prevalence of the beta-thalassemia trait in the Guangzhou area of China.[J].1996,98.
- [5]廖灿,徐湘民,黄以宁,等.反向点杂交法用于产前诊断β-地中海贫血60例分析[J].1996,(6).
- [6]邓捷,刘新质,刘颖琳.应用平均红细胞体积测定法及红细胞脆性一管定量法筛查地中海贫血[J].2000,(10).