印度人群非综合征性听力损失的遗传学图谱
Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.
作者信息
Ray Manisha, Sarkar Saurav, Sable Mukund Namdev
机构信息
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
Department of Otolaryngology, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India.
出版信息
J Pediatr Genet. 2021 Dec 14;11(1):5-14. doi: 10.1055/s-0041-1740532. eCollection 2022 Mar.
Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 ( ) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process.
先天性非综合征性听力损失（NSHL）被认为是儿童中最常见的慢性疾病之一。它影响着全球大量儿童的身心健康。由于基因异质性，鉴定靶基因极具挑战性。然而，缝隙连接β-2（ ）被视为听力损失的关键基因，因为在NSHL病例中其受累情况屡有报道。本研究旨在基于印度人群已发表的研究，确定不同印度人群中 突变体的关联。这将为印度生物地理学中NSHL提供明确的遗传基础，有助于诊断过程。
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