分类号：R714.55
出版年·卷·期（页码）：2015·7·第4期（24-27）
DOI:
10.13470/j.cnki.cjpd.2015.04.006
-----摘要：-------------------------------------------------------------------------------------------
目的 假肥大型肌营养不良症（Duchenne / Becker muscular dystrophy (DMD/BMD）是一种X-连锁隐性致死性遗传病，尚无特异性治疗方法，建立一套适合于DMD基因点突变产前诊断及早期产前诊断的方法，为携带者产前诊断提供有效的基因诊断途径，以避免患胎的出生。方法 27例DMD基因点突变携带者妊娠期取绒毛组织或羊水进行风险胎儿的DMD基因测序、DNA-STR分型和性别基因检测。结果 27个风险胎儿中，检出DMD患胎6例,其中无义突变3例,移码突变2例, 剪接位点突变1例；检出携带者胎儿8例，其中移码突变4例,无义突变3例，剪接位点突变1例；13例为正常胎儿。27例中11例是通过绒毛膜穿刺活检进行，其余为羊膜腔穿刺羊水检查。结论 基因测序结合STR连锁分析用于用于DMD点突变的产前基因诊断是目前一种准确和可行的方法。可成功地避免患病胎儿的出生，并能明确区分DMD基因纯合子和杂合子突变，避免正常胎儿被错误淘汰。
-----英文摘要：---------------------------------------------------------------------------------------
Objective Duchenne / Becker muscular dystrophy (DMD/BMD) is an X-linked lethal recessive disease caused by mutations in the dystrophy gene. There is no specific and efficient treatment for this serious and disabling disease. We performed prenatal diagnosis for the carriers with DMD gene point mutations to early detection and prevent fatal birth defects in birth. Method Using DNA sequencing and linkage analysis of short tandem repeats (STR) methods,27cases which carrying DMD gene point mutations were performed prenatal diagnosis through amniocentesis or chorionic villus sampling. Results Within 27 cases of DMD risk fetus, 6 cases were found to be sufferer; in which 3 cases were Nonsense mutation homozygote, 2cases were Shift code mutations，1case was Splice site mutation. 8 cases were carrier, in which 4cases were Shift code mutation heterozygote, 3 cases were Nonsense mutation heterozygote, 1 case was Splice site mutation heterozygote.13 cases were normal. 16cases were performed prenatal diagnosis through amniocentesis and 11cases through chorionic villus sampling. Conclusions DNA sequencing combined with linkage analysis of short tandem repeats (STR) provides a accurate and available method for DMD point mutation in prenatal diagnosis. It can make a distinction between DMD gene homozygote and heterozygote, avoid misdiagnosis of normal male fetus.
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李少英,何文智,刘海波,冼嘉嘉,马晓燕,王晓蔓,黎青.基因测序结合STR连锁分析在假肥大型肌营养不良症产前诊断中的应用.中国产前诊断杂志,2015,7(4):24-27.
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