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Genetic Mapping and Pedigree Analysis of Non-syndromic Congenital Deafness in Surabaya, Indonesia

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DataCite Commons2022-11-23 更新2024-07-29 收录
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https://figshare.com/articles/dataset/Genetic_Mapping_and_Pedigree_Analysis_of_Non-syndromic_Congenital_Deafness_in_Surabaya_Indonesia/21607368
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A total of 138 unrelated patients with non-syndromic hearing loss were enrolled in this study, where 49 patients met the inclusion criteria. 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.
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figshare
创建时间:
2022-11-23
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