遗传学
疾病
基因型
突变
生物
病因学
基因检测
基因
医学
病理
作者
Mor Hanany,Carlo Rivolta,Dror Sharon
标识
DOI:10.1073/pnas.1913179117
摘要
Significance By computing genotype data from six major world populations, we aimed at calculating how many individuals are affected with an autosomal recessive (AR) form of inherited retinal disease (IRD) or carry a mutation that can be transmitted to future generations. By analyzing variants in 187 IRD-associated genes, we detected 10,044 mutations and estimated that 2.7 billion individuals worldwide are carriers of an IRD disease-causing mutation, whereas 5.5 million are expected to be affected. This study will assist clinicians in their decision about the need to perform relevant genetic tests when diagnosing patients with IRDs. Similar studies can take advantage of our approach to calculate the expected number of affected or carrier individuals for any genetic disease with known molecular etiology.
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