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首页> 外文期刊>Journal of human genetics >Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
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Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.

机译：c.1559delT在ALPL中的流行，ALPL是一种常见突变，在日语中会导致围生期（致命）形式的低磷血症，并且该突变对杂合子携带者有影响。

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摘要

Hypophosphatasia (HPP) is an inherited disorder caused by mutations in ALPL that encodes an isozyme of alkaline phosphatase (ALP), TNSALP. One of the most frequent ALPL mutations is c.1559delT, which causes the most severe HPP, the perinatal (lethal) form (pl-HPP). c.1559delT has been found only in Japanese and its prevalence is suspected to be high; however, the allele frequency of c.1559delT in Japanese remains unknown. We designed a screening system for the mutation based on high-resolution melting curve analysis, and examined the frequency of c.1559delT. We found that the c.1559delT carrier frequency is 1/480 (95% confidence interval, 1/1562-1/284). This indicates that approximately 1 in 900 000 individuals to have pl-HPP caused by a homozygous c.1559delT mutation. In our analysis, the majority of c.1559delT carriers had normal values of HPP biochemical markers, such as serum ALP and urine phosphoethanolamine. Our results indicate that the only way to reliably detect whether individuals are pl-HPP carriers is to perform the ALPL mutation analysis.
机译：低磷血症（HPP）是由ALPL突变引起的遗传性疾病，该突变编码碱性磷酸酶（ALP）的同工酶TNSALP。最常见的ALPL突变之一是c.1559delT，它引起最严重的HPP，即围产期（致死）形式（pl-HPP）。仅在日语中发现了c.1559delT，据怀疑其流行程度很高;但是，日语中c.1559delT的等位基因频率仍然未知。我们基于高分辨率熔解曲线分析设计了针对突变的筛选系统，并检查了c.1559delT的频率。我们发现c.1559delT载波频率为1/480（95％置信区间1 / 1562-1 / 284）。这表明，在90万个体中，大约有1个个体是由纯合c.1559delT突变引起的pl-HPP。在我们的分析中，大多数c.1559delT携带者的HPP生化指标（如血清ALP和尿液磷酸乙醇胺）具有正常值。我们的结果表明，可靠地检测个体是否为p1-HPP携带者的唯一方法是执行ALPL突变分析。

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