对五例有风险妊娠进行X连锁视网膜色素变性（RP）的产前诊断。

Prenatal diagnosis of X-linked retinitis pigmentosa (RP) in five pregnancies at risk.

作者信息

Iampieri M P, Mingarelli R, Le Guern E, Novelli G, Dallapiccola B

机构信息

Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.

出版信息

Prenat Diagn. 1994 Apr;14(4):285-9. doi: 10.1002/pd.1970140408.

DOI:10.1002/pd.1970140408

PMID:8066038

Abstract

Five pregnancies at risk for X-linked retinitis pigmentosa (RP) have been monitored by first-trimester prenatal diagnosis using DNA markers flanking the RP2 and RP3 loci. Three affected and two unaffected fetuses, including a female carrying a wild-type genotype, were predicted on the basis of marker segregation and estimation of the recombination fraction.

摘要

通过使用位于RP2和RP3基因座侧翼的DNA标记，对5例有X连锁视网膜色素变性（RP）风险的妊娠进行了孕早期产前诊断监测。根据标记物分离和重组率估计，预测出3例患病胎儿和2例未患病胎儿，其中包括1例携带野生型基因型的女性胎儿。