Liu N, Zhuo Z-H, Wang H-L, Kong X-D, Shi H-R, Wu Q-H, Jiang M
a Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
b Department of Pediatrics , the First Affiliated Hospital of Zhengzhou University , Zhengzhou , P. R. China.
J Obstet Gynaecol. 2015;35(5):490-3. doi: 10.3109/01443615.2014.969209.
We explored the feasibility of applying gene diagnosis in prenatal diagnosis by analysis of hypoxanthine-guanine phosphoribosyltransferase-1 (HPRT1) gene mutation in a Chinese Lesch-Nyhan family. A homozygous mutation of p.R170X (c.508C＞T) in HPRT1 gene was detected in the proband, and a heterozygous mutation of p.R170X was detected in his mother. This mutation failed to be found in the 50 unrelated healthy individuals. Prenatal diagnosis indicated that the foetus was male and also carried p.R170X (c.508C＞T) mutation, same as the proband. Parents of the foetus decided termination of pregnancy, and the result of gene analysis for the aborted tissue was consistent with that of prenatal diagnosis. We can see that Lesch-Nyhan syndrome (LNS) is caused by non-sense mutation p.R170X（c.508C＞T）in HPRT1 gene in this family. Prenatal gene diagnosis is a valid strategy to prevent LNS because it can avoid the birth of LNS foetuses.
我们通过分析一个中国莱施-奈恩（Lesch-Nyhan）家系中的次黄嘌呤-鸟嘌呤磷酸核糖转移酶-1（HPRT1）基因突变，探讨了基因诊断应用于产前诊断的可行性。在先证者中检测到HPRT1基因存在p.R170X（c.508C＞T）纯合突变，在其母亲中检测到p.R170X杂合突变。在50名无亲缘关系的健康个体中未发现该突变。产前诊断表明胎儿为男性，且同样携带p.R170X（c.508C＞T）突变，与先证者相同。胎儿的父母决定终止妊娠，对流产组织的基因分析结果与产前诊断一致。我们可以看出，该家系中的莱施-奈恩综合征（LNS）是由HPRT1基因的无义突变p.R170X（c.508C＞T）引起的。产前基因诊断是预防LNS的有效策略，因为它可以避免LNS胎儿的出生。
