Aliazami Farnoush, Farhud Dariush, Zarif-Yeganeh Marjan, Salehi Siamak, Hosseinipour Azam, Sasanfar Roxana, Eslami Maryam
Department of Genetics, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.
Applied Biotechnology Research Center, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.
Iran J Public Health. 2020 Nov;49(11):2128-2135. doi: 10.18502/ijph.v49i11.4730.
Hearing loss (HL) is one of the most common heterogeneous congenital disabilities worldwide. Gap junction protein β-3 () gene encodes Connexin31 protein (Cx31). The hereditary type of hearing impairment in this gene are known to cause both autosomal recessive and autosomal dominant form. In addition, mutations have been involved in sensorineural deafness, erythrokeratodermia variabilis (EKV), and neuropathy diseases. We aimed to investigate mutations in people suffering from HL among three different ethnicities of Iranian population (Baloch, Kurd, and Turkmen).
In this descriptive study, 50 -negative non-syndromic hearing loss (NSHL) Iranian individuals from 3 ethnic groups of Baloch (n=17), Kurd (n =15) and Turkmen (n=18) were enrolled. DNA extractions, PCR, and mutation detection was carried out for the two large deletions of the , del (GJB6 -D13S1830,) and del ( -D13S1854) followed by direct DNA sequencing method for the .
DNA sequencing of was shown a missense heterozygous mutation rs199689484 (NM_024009.3) GJB3: c.340G>A (p.Ala114Thr) in a Baloch patient, and a polymorphism rs35983826 (NM_024009.3) : c.798C>T (p.Asn266=) in a Turkman patient, in coding region of the . We did not detect del (GJB6 -D13S1830) and del (GJB6 -D13S1854) among these three ethnicities in Iran.
Deafness is a heterogeneous disorder. Specific genes and mutations contribute to hearing loss that varies from locus to locus as well as from population to population.
听力损失（HL）是全球最常见的异质性先天性残疾之一。缝隙连接蛋白β-3（GJB3）基因编码连接蛋白31（Cx31）蛋白。已知该基因的遗传性听力障碍可导致常染色体隐性和常染色体显性两种形式。此外，GJB3突变还与感音神经性耳聋、可变型红斑角化病（EKV）和神经病变疾病有关。我们旨在调查伊朗人群中三个不同种族（俾路支、库尔德和土库曼）的HL患者的GJB3突变情况。
在这项描述性研究中，招募了50名来自俾路支（n = 17）、库尔德（n = 15）和土库曼（n = 18）这三个种族的GJB3阴性非综合征性听力损失（NSHL）伊朗个体。对GJB3的两个大片段缺失del（GJB6 - D13S1830）和del（GJB6 - D13S1854）进行DNA提取、聚合酶链反应（PCR）和突变检测，随后对GJB3采用直接DNA测序法。
对GJB3进行DNA测序显示，一名俾路支患者存在错义杂合突变rs199689484（NM_024009.3）GJB3：c.340G>A（p.Ala114Thr），一名土库曼患者在GJB3编码区存在多态性rs35983826（NM_024009.3）：c.798C>T（p.Asn266=）。在伊朗的这三个种族中，我们未检测到del（GJB6 - D13S1830）和del（GJB6 - D13S1854）。
耳聋是一种异质性疾病。特定的基因和突变导致了不同位点以及不同人群之间存在差异的听力损失。
