【摘 要】
:
Background: Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better und
【机 构】
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Prenatal Diagnosis Centre, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China
【出 处】
:
广东省遗传学会第九届代表大会暨学术研讨会
论文部分内容阅读
Background: Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population.Methods: 7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array.Further genetic testing were provided to the spouses of the screened carriers.For those couples at risk, multiple choices were provided, including prenatal diagnosis.Results: Among the 7,263 normal hearing participants, 303 subjects carried pathogenic mutations included in the screening chip, which made thecarrier rate 4.17%.Of the 303 screened carriers, 282harbored heterozygous mutated genes associated with autosomal recessive hearing loss, and 95 spouses took further genetic tests.8 out of the 9 couples harbored deafness-causing mutations in the same gene received prenatal diagnosis.Conclusions: Given that nearly 90 to 95 percent of deaf and hard-of-hearing babies are born into hearing families, better understanding about thecarrier rate and mutation spectrum of genes associated with hearing impairment in the female population of childbearing age may be of importance incarrier screening and genetic counseling.
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