Article
[Nonsyndromic inherited hearing impairment caused by mtDNA double mutations of A1555G and 961 insC].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2004
Cao Xin, Xing Guang-qian, Wei Qin-jun, Bu Xing-kuan, Wang Deng-yuan
Abstract excerpt
OBJECTIVE: To investigate the genotypes of mitochondrial DNA mutations of a large nonsyndromic inherited hearing impairment pedigree. METHODS: The diagnosis was validated by hearing test. Blood samples from the branch pedigree (33 members) and 6 sporadic patients were obtained. DNA was extracted from the leukocytes. The mitochondrial DNA target fragments were amplified by polymerase chain reaction(PCR). The...
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