Bauer J W, Ortiz S, Hengstschläger M, Pulkkinen L, Uitto J, Hintner H, Rappersberger K
Dermatologische Abteilung, Landeskrankenanstalten Salzburg.
Hautarzt. 1999 Feb;50(2):121-6. doi: 10.1007/s001050050875.
DNA-based prenatal testing of the fetal genotype was performed in a family at risk for recurrence of recessive dystrophic epidermolysis bullosa (RDEB). DNA from cultured fibroblasts and leukocytes from the peripheral blood of the previously affected offspring, DNA from parental leukocytes and DNA from fetal tissue obtained by chorionic villus biopsy was analysed by direct PCR amplification of known polymorphic regions within or flanking the type VII collagen gene, the candidate gene in RDEB. One flanking marker (D3S2/Mspl) as well as two intragenic polymorphisms (C7/Mspl, C7/Eco01091) in exons 30 and 84 were informative in this family. Thus, based on the haplotype analysis and the lack of evidence for locus heterogeneity in RDEB, a phenotypically healthy child was predicted. This prediction was confirmed by the birth of a healthy female infant. The study reports successful determination of the fetal genotype by PCR-based prenatal diagnosis in a family at risk for recurrence of severe RDEB.
对一个有隐性营养不良性大疱性表皮松解症（RDEB）复发风险的家庭进行了基于DNA的胎儿基因型产前检测。通过对先前患病后代外周血中的培养成纤维细胞和白细胞的DNA、亲代白细胞的DNA以及通过绒毛取样获得的胎儿组织的DNA，采用直接PCR扩增VII型胶原基因（RDEB中的候选基因）内部或侧翼的已知多态性区域进行分析。在这个家庭中，一个侧翼标记（D3S2/MspI）以及外显子30和84中的两个基因内多态性（C7/MspI、C7/Eco0109I）具有信息性。因此，基于单倍型分析以及RDEB中不存在基因座异质性的证据，预测胎儿为表型健康。这一预测在一名健康女婴出生后得到证实。该研究报告了在一个有严重RDEB复发风险的家庭中，通过基于PCR的产前诊断成功确定胎儿基因型。
