Article
Detection of male 2+0 and 1+0 carriers for spinal muscular atrophy by digital PCR.
Clinical genetics - 1 Jul 2023
Gao Shanshan, Wu Dongping, Liu Shuai, Shen Yanlong, Zhao Zhehao, Wang Yanhua, Kong Xiangdong
Abstract excerpt
Spinal muscular atrophy (SMA) is an autosomal recessive disease with a high carrier frequency. While current screening methods can identify 1+0 carriers, detecting 2+0 genotypes remains challenging, highlighting the need for additional research. Herein, we applied Digital Polymerase Chain Reaction (dPCR) to develop a novel approach for the detection of male carriers (DMC), especially for those with a 2+0...
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