Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
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DOI：
10.1002/humu.21327
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发表时间：
2010-11
期刊：
影响因子：
3.9
通讯作者：
Kornreich, Ruth
中科院分区：
文献类型：
--
作者：
Scott, Stuart A.;Edelmann, Lisa;Liu, Liu;Luo, Minjie;Desnick, Robert J.;Kornreich, Ruth
产前携带者筛查作为德系犹太人 (AJ) 人群疾病预防策略的成功推动了筛查小组的扩大，因为已确定了致病突变。然而，许多这些突变的携带频率尚未在大型 AJ 队列中报告。我们确定了纽约大都市区 AJ 人群中 16 种隐性疾病的 100 多种突变的携带频率。在 100% AJ 后裔个体中，对 16 种疾病进行筛查后，约 3.3 人中就有 1 人成为一种疾病的携带者，约 24 人中约 1 人成为两种疾病的携带者。携带者频率范围从 0.066（15.2 分之一；戈谢病）到 0.006（168 分之一；线状肌病），平均比所有筛查者高出约 15%。重要的是，超过 95% 的筛查者选择筛查所有可能的 AJ 疾病，包括携带频率和/或可检测性较低的疾病。携带者筛查还发现了罕见的致病突变纯合子个体，这些个体之前的临床表现未被识别。此外，还报告了所有 16 种疾病 (n = 574) 的产前检测结果和经验。这些数据共同表明了 AJ 人群中 16 种疾病的普遍接受度、携带频率和产前检测结果。
The success of prenatal carrier screening as a disease prevention strategy in the Ashkenazi Jewish (AJ) population has driven the expansion of screening panels as disease-causing founder mutations have been identified. However, the carrier frequencies of many of these mutations have not been reported in large AJ cohorts. We determined the carrier frequencies of over 100 mutations for 16 recessive disorders in the New York metropolitan area AJ population. Among the 100% AJ-descended individuals, screening for 16 disorders resulted in ~1 in 3.3 being a carrier for one disease and ~1 in 24 for two diseases. The carrier frequencies ranged from 0.066 (1 in 15.2; Gaucher disease) to 0.006 (1 in 168; nemaline myopathy), which averaged ~15% higher than those for all screenees. Importantly, over 95% of screenees chose to be screened for all possible AJ diseases, including disorders with lower carrier frequencies and/or detectability. Carrier screening also identified rare individuals homozygous for disease-causing mutations who had previously unrecognized clinical manifestations. Additionally, prenatal testing results and experience for all 16 disorders (n = 574) are reported. Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population.
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影响因子：
3.6
作者：
Brownstein, Z;Ben-Yosef, T;Avraham, KB
通讯作者：
Avraham, KB
影响因子：
7.2
作者：
通讯作者：
--
影响因子：
2
作者：
Feigenbaum, A;Moore, R;Stockley, TL
通讯作者：
Stockley, TL
DOI：
10.1002/ajmg.10450
发表时间：
2002-07-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Dong, JL;Edelmann, L;Desnick, RJ
通讯作者：
Desnick, RJ
影响因子：
1
作者：
Al Sulaiman, Ayman;Suliman, Ahmed;Owaidah, Tarek M.
通讯作者：
Owaidah, Tarek M.