Article
[SNP array and cytogenetic analysis of a patient with unexplained mental retardation].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2016
Bai Nan, Mei Shiyue, Zhao Zhenhua, Kong Xiangdong
Abstract excerpt
OBJECTIVE: To analyze a patient with unexplained mental retardation by using three primer PCR (TP-PCR) and single nucleotide polymorphisms array (SNP-array), and to correlate the genotype with phenotype. METHODS: Peripheral blood sample was taken from the patient for the extraction of DNA. TP-PCR was used to determine the copy number of CGG repeats in the 5'UTR of the FMR1 gene. SNP array was used for high...
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