Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia
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DOI：
10.1002/(sici)1097-0223(199908)19:8
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发表时间：
1999-08
影响因子：
3
通讯作者：
E. Mornet;F. Muller;S. Ngo;A. Taillandier;B. Simon‐Bouy;I. Maire;J. Oury
中科院分区：
文献类型：
--
作者：
E. Mornet;F. Muller;S. Ngo;A. Taillandier;B. Simon‐Bouy;I. Maire;J. Oury
通过组织非特异性碱性磷酸酶（TNSALP）基因突变分析产前诊断重度低磷酸酶症是可靠的，且信息量最大。然而，CVS的碱性磷酸酶（ALP）测定可能是一种有用的补充和独立的方法，特别是当突变是未鉴定的，从索引情况下的DNA是不可用的，使得不可能使用的DNA多态性作为遗传标记的疾病。我们在这里报告的TNSALP基因突变分析和碱性磷酸酶测定在产前诊断的9例严重低磷酸酶症。结果表明，ALP测定和DNA分析之间的良好的相关性，但在所有情况下，这表明，在至少一些情况下，低值的ALP可能对应于受影响的胎儿以及杂合子。版权所有© 1999年约翰威利父子有限公司。
Prenatal diagnosis of severe hypophosphatasia by mutation analysis of the tissue non‐specific alkaline phosphatase (TNSALP) gene is reliable and mostly informative. However, alkaline phosphatase (ALP) assay of CVS may be a useful complementary and independent method, especially when a mutation is unidentified and DNA from the index case is unavailable, rendering impossible the use of DNA polymorphisms as genetic markers of the disease. We report here mutation analysis of the TNSALP gene and ALP assay in nine cases of prenatal diagnosis of severe hypophosphatasia. The results showed a good correlation between ALP assay and DNA analysis in all but one case, which suggested that in at least some cases low values of ALP may correspond to affected fetuses as well as to heterozygotes. Copyright © 1999 John Wiley & Sons, Ltd.