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首页> 外文期刊>Genetic testing and molecular biomarkers >Wolma-Disease (LIPA p.G87V) Genotype Frequency in People of Iranian-Jewish Ancestry
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Wolma-Disease (LIPA p.G87V) Genotype Frequency in People of Iranian-Jewish Ancestry

机译：Wolma-Disease(脂肪酶p.G87V)基因型频率Iranian-Jewish血统的人

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摘要

Wolman disease (WD) is a rare inherited condition caused by lysosomal acid lipase (LAL) deficiency first described in Iranian-Jewish (IJ) children. Newborns with WD are healthy and active, but soon the infant develops symptoms of severe malnutrition in the first few months of life, and often dies before the age of 1 year. Harmful amounts of lipids accumulate in the spleen, liver, bone marrow, intestine, adrenal glands, and lymph nodes. Although worldwide incidence is estimated at 1/350,000 newborns, WD occurs at higher than expected frequency in the IJ community of the Los Angeles area. As a validation study, we analyzed 162 DNA specimens of IJ origin by automated sequencing. For LIPA p. G87V (ggc > gtc, alternative numbering p. G66V), a heterozygous frequency of 5/162 (3.086%) was discovered. Thus, we estimate that as high as 1 in 4200 newborns of IJ couples may be at risk. Additional studies are required to confirm and further validate the higher frequencies seen in our sample pool, and to determine if people of IJ and even possibly Middle Eastern descent are at a higher risk for WD.
机译：防腐疾病(WD)是一种罕见的遗传性疾病由溶酶体酸性脂肪酶(LAL)不足引起的第一个描述Iranian-Jewish (IJ)的孩子。新生儿WD是健康和活跃,但很快婴儿发展严重的症状在生命的最初几个月,营养不良通常在1岁之前死去。大量的脂质积聚在脾,肝、骨髓、肠、肾上腺和淋巴结。估计1/350,000新生儿,WD发生在IJ频率高于预期洛杉矶地区的社区。验证研究中,我们分析了162个DNA标本IJ起源的自动排序。G87V (gtc ggc >替代编号G66V页),一个杂合的5/162(3.086%)的频率发现。4200年新生儿的IJ夫妇可能面临风险。需要更多的研究来证实进一步验证了高频率出现我们的样品池,以确定IJ甚至可能在中东血统WD的风险更高。

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