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Genetic screening of neonates for 20 most common mutations in deafness associated genes in anhui province of China
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نویسنده
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tang j. ,feng g. ,sun y. ,wang c. ,khan m.r. ,bukhari i. ,zhu j.
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منبع
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pakistan journal of zoology - 2016 - دوره : 48 - شماره : 5 - صفحه:1573 -1577
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چکیده
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Hearing loss is the most common human genetic disorder caused by mutations in various genes. current study was initiated to analyze the 20 most common mutations by maldi-tof-ms method in deafness-associated genes (gjb2,gjb3,slc26a4 and mitochondrial 12srrna) in 3,331 newborns from anhui province of china. the analysis of data revealed that variations in gjb2 has high frequency 2.82% while slc26a4,gjb3,and mitochondrial 12srrna were found to have 2.49%,0.42%,and 0.33% respectively. this study is conducted for the first time on newborns in anhui province,china which confirms the significant role of mutations in etiology of deafness in this population. © copyright 2016 zoological society of pakistan.
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کلیدواژه
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Deafness; GJB2; GJB3; Mitochondrial 12SrRNA; Mutations; Postnatal genetic screening; SLC26A4
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آدرس
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maternity and child health hospital of anhui province,maternal and child health clinical college,anhui medical university,hefei, China, clinical genetics laboratory,first affiliated hospital of wannan medical college,wuhu,anhui, China, maternity and child health hospital of anhui province,maternal and child health clinical college,anhui medical university,hefei, China, maternity and child health hospital of anhui province,maternal and child health clinical college,anhui medical university,hefei, China, school of life sciences,university of science and technology of china,hefei,anhui, China, school of life sciences,university of science and technology of china,hefei,anhui,china,department of biotechnology,women university of ajk,bagh, Pakistan, maternity and child health hospital of anhui province,maternal and child health clinical college,anhui medical university,hefei, China
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Authors
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