Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
Molecular testing for Fragile X Syndrome: Lessons learned from 119,232 tests performed in a clinical laboratory
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DOI：
10.1097/gim.0b013e31802d833c
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发表时间：
2007-01-01
影响因子：
8.8
通讯作者：
Sun, Weimin
中科院分区：
文献类型：
--
作者：
Strom, Charles M.;Crossley, Beryl;Sun, Weimin
目的：检查来自119，000多个脆性X综合征测试和307个产前测试的数据，以检测意外发现，并在需要时获得临床数据，以优化遗传咨询。研究方法：查询了一个专有数据库，其中包含1992年11月2日至2006年6月1日期间进行的119，232次连续产后和307次产前FXS测试。结果：正常FMR 1等位基因分布为双峰分布，主峰在30个重复，次峰在21个重复。在对男性进行的59，707次检测中，1.4%具有完全扩增和甲基化的FMR 1等位基因。在对女性进行的59，525次检测中，0.61%具有受影响的FMR 1等位基因，1.7%具有前突变FMR 1等位基因，总携带者频率为1.3%。当胎儿遗传了一个扩展的母体等位基因时，对于< 50、50-75、76-100和> 100个重复的等位基因大小，扩展为完全受影响的等位基因的风险分别为0%、5%、30%和100%。结论：这些数字可用于遗传咨询的患者提出的载体检测和产前诊断的脆性X综合征。
Purpose: To examine the data from over 119,000 Fragile X Syndrome tests and 307 prenatal tests to detect unsuspected findings and obtain clinical data when indicated to optimize genetic counseling. Methods: A proprietary database containing 119,232 consecutive postnatal and 307 prenatal FXS tests performed between November 2, 1992 and June 1, 2006 was queried. Results: The distribution of normal FMR1 alleles was a bimodal distribution with a major peak at 30 repeats and a minor peak at 21 repeats. Of 59,707 tests performed for males, 1.4% had a fully expanded and methylated FMR1 allele. Of 59,525 tests performed for females, 0.61% had an affected FMR1 allele, and 1.7% had a premutation FMR1 allele for a total carrier frequency of 1.3%. When fetuses inherited an expanded maternal allele, the risk of expansion to a full affected allele was 0%, 5%, 30% and 100% for allele sizes of < 50, 50-75, 76-100 and > 100 repeats, respectively. Conclusions: These figures can be used for genetic counseling of patients presenting for carrier detection and prenatal diagnosis for Fragile X Syndrome.