Scholarlink

<p>Congenital hearing loss significantly impacts quality of life and is frequently associated with genetic factors, notably mutations in the GJB2 gene. Consanguineous marriages, prevalent in certain populations, may increase the incidence of hereditary hearing impairments. To assess the genetic association of the GJB2 gene (W24X variant, rs104894396) with congenital non-syndromic hearing loss, evaluating its relationship with consanguinity and family history. A total of 64 children aged between 2 and 18 years with congenital non-syndromic hearing loss were enrolled, classified into consanguineous (<i>n</i> = 32) and non-consanguineous (<i>n</i> = 32) groups. Genomic DNA was isolated using the QIAamp DNA Blood Mini Kit from blood samples collected following ethical approval and informed consent. PCR-RFLP technique employing AluI enzyme was utilized for genotyping the GJB2 variant. Strict quality control measures were maintained throughout genotyping. Genotype distribution revealed no significant difference between consanguineous (C/C: 87.5%, C/A: 3.1%, A/A: 9.4%) and non-consanguineous (C/C: 87.9%, C/A: 3.0%, A/A: 9.1%) groups (<i>p</i> = 1.0). Allele frequency analysis showed 89.2% for the C allele and 10.8% for the A allele. The sample demonstrated a marked deviation from Hardy-Weinberg Equilibrium (χ²=46.1; <i>p</i> &lt; 0.001). No significant link was observed between the GJB2 variant and family history of hearing loss. The study confirmed a significant correlation between consanguinity and increased prevalence of congenital hearing loss but found no specific association between consanguinity and the studied GJB2 variant. Larger population-based genetic screening studies are recommended to clarify the genetic basis of congenital deafness.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Genetic Silhouettes in Congenital Hearing Loss: Tracing GJB2 Inheritance Through the Lens of Consanguineous Marriages

  • 期刊论文

  • 发表日期：

    2025年9月25日

查看全文
  • Sangamitra Vijayakumar,
  • Priti S. Hajare,
  • Bhushan B. Kulkarni,
  • Ramesh S. Paranjape,
  • Mehreen Salim Belawadi

摘要

Congenital hearing loss significantly impacts quality of life and is frequently associated with genetic factors, notably mutations in the GJB2 gene. Consanguineous marriages, prevalent in certain populations, may increase the incidence of hereditary hearing impairments. To assess the genetic association of the GJB2 gene (W24X variant, rs104894396) with congenital non-syndromic hearing loss, evaluating its relationship with consanguinity and family history. A total of 64 children aged between 2 and 18 years with congenital non-syndromic hearing loss were enrolled, classified into consanguineous (n = 32) and non-consanguineous (n = 32) groups. Genomic DNA was isolated using the QIAamp DNA Blood Mini Kit from blood samples collected following ethical approval and informed consent. PCR-RFLP technique employing AluI enzyme was utilized for genotyping the GJB2 variant. Strict quality control measures were maintained throughout genotyping. Genotype distribution revealed no significant difference between consanguineous (C/C: 87.5%, C/A: 3.1%, A/A: 9.4%) and non-consanguineous (C/C: 87.9%, C/A: 3.0%, A/A: 9.1%) groups (p = 1.0). Allele frequency analysis showed 89.2% for the C allele and 10.8% for the A allele. The sample demonstrated a marked deviation from Hardy-Weinberg Equilibrium (χ²=46.1; p < 0.001). No significant link was observed between the GJB2 variant and family history of hearing loss. The study confirmed a significant correlation between consanguinity and increased prevalence of congenital hearing loss but found no specific association between consanguinity and the studied GJB2 variant. Larger population-based genetic screening studies are recommended to clarify the genetic basis of congenital deafness.