印度拉达克地区先天性听力损失患者连接蛋白26和连接蛋白30基因突变的频谱和频率

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2021-12-01 DOI:10.1016/j.mgene.2021.100960
Mohd Murtaza , Mahrukh Hameed Zargar , Oliyath Ali , Ishfaq Shafi Khan , Md Niamat Ali
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引用次数: 0

摘要

先天性听力损失是指产前听力障碍,是感觉障碍中常见的问题,从轻微到严重不等。在这项研究中,我们筛选了连接蛋白26的参与;通过靶基因测序对印度拉达克卡吉尔地区先天性听力损失患者的连接蛋白30基因进行了研究。材料与方法采集患者外周血,提取DNA, PCR检测目的基因。然后对扩增的靶基因进行测序并分析核苷酸序列的任何变化。结果在本研究中,连接蛋白26;连接蛋白30是与听力损失相关的靶基因,在本研究中,我们发现了连接蛋白26基因的突变,而在连接蛋白30基因中没有发现突变。在connexin 26基因中发现的突变分别为“NM_004004:c.71G>A”、“NM_004004:c.223C>T”、“NM_004004:c230G>A”、“NM_004004:c.380G>A”和“NM_004004:c.439G>A”,将氨基酸分别改变为W24X、R75W、W77X、R127H和E147K,患者中connexin 26突变的频率为23%,队列中总体突变的频率为14.5%。本研究发现“NM_004004:c.71G>A (W24X)核苷酸变异为常见突变。纯合子变异和杂合子变异均有发现。R127H是在对照样品中观察到的唯一突变。连接蛋白26基因突变与先天性听力损失家族史和亲属关系之间存在显著关联,p值为P<0.001。结论及意义虽然已发现其病因是多因素的。然而,任何核苷酸变异在感兴趣的基因中的作用需要彻底调查,以研究异常的遗传病因。本研究结果显示先天性听力损失与连接蛋白26基因呈正相关。然而,我们没有发现连接蛋白30基因在先天性听力损失中的任何作用。
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Spectrum and frequency of connexin 26 & connexin 30 gene mutations in patients with congenital hearing loss from Ladakh India

Background

Congenital hearing loss refers to prenatal hearing impairment, which is the commonly shared problem among sensory disorders that ranges from slight to profound. In this study, we screened the involvement of connexin 26 & connexin 30 gene in congenital hearing loss patients from the Kargil district of Ladakh, India by target gene sequencing.

Materials and methods

The peripheral blood sample of the patients was collected followed by DNA extraction and PCR of the target gene of interest. The amplified target gene was then sequenced and analysed for any changes in nucleotide sequence.

Results

In this study, the connexin 26 & connexin 30 are the target gene that are associated with hearing loss and in this study, we found mutations in the connexin 26 gene and none of the mutations were found in the connexin 30 gene. The mutations found in the connexin 26 gene are “NM_004004:c.71G>A, “NM_004004:c.223C>T, “NM_004004:c230G>A, “NM_004004:c.380G>A, and “NM_004004:c.439G>A which change the amino acids to W24X, R75W, W77X, R127H, and E147K respectively and the frequency of the connexin 26 mutations in patients was 23% and the overall mutations in the cohort were 14.5%. This study found that “NM_004004:c.71G>A (W24X) nucleotide variant as common mutation. Both homozygous as well as heterozygous variants were found. R127H was the only mutation observed in control samples. A significant association was seen between connexin 26 gene mutations and familial history of congenital hearing loss and consanguinity with the p-value P<0.001.

Conclusion and significance

Although the etiology has been found to be multifactorial. However, the role of any nucleotide variant in the gene of interest needs to be thoroughly investigated to study the genetic etiology of the anomalies. The results of this study showed a positive association between congenital hearing loss and the connexin 26 gene. However, we did not find any role of the connexin 30 gene in congenital hearing loss.

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来源期刊
Meta Gene
Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍: Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.
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