评估布朗克斯区人群孟德尔疾病的风险。
Assessing risk for Mendelian disorders in a Bronx population.
作者信息
diSibio Guy, Upadhyay Kinnari, Meyer Philip, Oddoux Carole, Ostrer Harry
机构信息
Department of Clinical ScienceCalifornia Northstate University College of MedicineElk GroveCalifornia.
Department of PathologyAlbert Einstein College of MedicineBronxNew York.
出版信息
Mol Genet Genomic Med. 2017 Jul 6;5(5):516-523. doi: 10.1002/mgg3.307. eCollection 2017 Sep.
BACKGROUND
To identify variants likely responsible for Mendelian disorders among the three major ethnic groups in the Bronx that might be useful to include in genetic screening panels or whole exome sequencing filters and to estimate their likely prevalence in these populations.
METHODS
Variants from a high-density oligonucleotide screen of 192 members from each of the three ethnic-national populations (African Americans, Puerto Ricans, and Dominicans) were evaluated for overlap with next generation sequencing data. Variants were curated manually for clinical validity and utility using the American College of Medical Genetics (ACMG) scoring system. Additional variants were identified through literature review.
RESULTS
A panel of 75 variants displaying autosomal dominant, autosomal recessive, autosomal recessive/digenic recessive, X-linked recessive, and X-linked dominant inheritance patterns representing 39 Mendelian disorders were identified among these populations.
CONCLUSION
Screening for a broader range of disorders could offer the benefits of early or presymptomatic diagnosis and reproductive choice.
背景
在布朗克斯区的三个主要种族群体中识别可能导致孟德尔疾病的变异，这些变异可能有助于纳入基因筛查面板或全外显子测序过滤器，并估计它们在这些人群中的可能患病率。
方法
对三个种族群体（非裔美国人、波多黎各人、多米尼加人）中每组192名成员进行高密度寡核苷酸筛查得到的变异，评估其与下一代测序数据的重叠情况。使用美国医学遗传学学会（ACMG）评分系统对变异进行人工整理，以确定其临床有效性和实用性。通过文献综述识别其他变异。
结果
在这些人群中鉴定出一组75个变异，它们表现出常染色体显性、常染色体隐性、常染色体隐性/双基因隐性、X连锁隐性和X连锁显性遗传模式，代表39种孟德尔疾病。
结论
对更广泛的疾病进行筛查可带来早期或症状前诊断以及生殖选择的益处。
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