Genetic Mapping and Pedigree Analysis of Non-syndromic Congenital Deafness in Surabaya, Indonesia
收藏NIAID Data Ecosystem2026-03-14 收录
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The subject’s average age was 16.16 years, the male subjects were more than female, the hearing degree was >100dB in both ears. The hybridization results obtained 6 genetic mutations, one subject with mtDNA 1555, one subject with GJB2-299, two subjects with SLC26A4-IVS(7)2, and 3 subjects with unknown mutations. In pedigree analysis, the same genetic mutation was found in two generations of subjects with mtDNA 1555 and GJB2-299 mutations, and mutations of more than one genetic type were found in two generations of subjects with the SLC26A4-IVS(7)2 mutation.
创建时间:
2022-11-23



