<?xml version="1.0" encoding="utf-8"?>
<journal>
<title>Journal of Basic Research in Medical Sciences</title>
<title_fa>مجله ی تحقیقات پایه در علوم پزشکی</title_fa>
<short_title>jbrms</short_title>
<subject>Medical Sciences</subject>
<web_url>http://jbrms.medilam.ac.ir</web_url>
<journal_hbi_system_id>1</journal_hbi_system_id>
<journal_hbi_system_user>admin</journal_hbi_system_user>
<journal_id_issn>2383-0506</journal_id_issn>
<journal_id_issn_online>2383-0972</journal_id_issn_online>
<journal_id_pii></journal_id_pii>
<journal_id_doi>10.61186/jbrms</journal_id_doi>
<journal_id_iranmedex></journal_id_iranmedex>
<journal_id_magiran></journal_id_magiran>
<journal_id_sid></journal_id_sid>
<journal_id_nlai></journal_id_nlai>
<journal_id_science></journal_id_science>
<language>en</language>
<pubdate>
	<type>jalali</type>
	<year>1405</year>
	<month>1</month>
	<day>1</day>
</pubdate>
<pubdate>
	<type>gregorian</type>
	<year>2026</year>
	<month>4</month>
	<day>1</day>
</pubdate>
<volume>13</volume>
<number>2</number>
<publish_type>online</publish_type>
<publish_edition>1</publish_edition>
<article_type>fulltext</article_type>
<articleset>
	<article>


	<language>en</language>
	<article_id_doi></article_id_doi>
	<title_fa></title_fa>
	<title>Investigation of the Frequency of 167delT Mutations of Gap Junction Protein Beta 2 (GJB2) Gene in the Deaf Population of Non-Syndromic West of Iran</title>
	<subject_fa>Medical genetics</subject_fa>
	<subject>Medical genetics</subject>
	<content_type_fa>پژوهشي</content_type_fa>
	<content_type>Research</content_type>
	<abstract_fa></abstract_fa>
	<abstract>&lt;span style=&quot;font-size:9pt&quot;&gt;&lt;span minion=&quot;&quot; pro=&quot;&quot; style=&quot;font-family:&quot;&gt;&lt;b&gt;Introduction&lt;/b&gt;: Deafness is one of the most common sensory-neural disorders, with 80% of hereditary deafness being non-syndromic. The aim of this study was to investigate the frequency of the 167delT mutation of the &lt;i&gt;gap junction protein beta 2&lt;/i&gt; (&lt;i&gt;GJB2&lt;/i&gt;) gene in the deaf population of non-syndromic West Iran.&lt;/span&gt;&lt;/span&gt;&lt;br&gt;
&lt;span style=&quot;font-size:9pt&quot;&gt;&lt;span minion=&quot;&quot; pro=&quot;&quot; style=&quot;font-family:&quot;&gt;&lt;b&gt;Materials &amp; Methods&lt;/b&gt;&lt;b&gt;&lt;span style=&quot;font-size:11.0pt&quot;&gt;&lt;span new=&quot;&quot; roman=&quot;&quot; style=&quot;font-family:&quot; times=&quot;&quot;&gt;: &lt;/span&gt;&lt;/span&gt;&lt;/b&gt;Seventy individuals were included in the study, with 34 being deaf and 36 being healthy. The RFLP-PCR technique was used to detect the 167delT mutation.&lt;span lang=&quot;FA&quot; dir=&quot;RTL&quot; style=&quot;font-family:&quot;Times New Roman&quot;,&quot;serif&quot;&quot;&gt;&lt;/span&gt;&lt;/span&gt;&lt;/span&gt;&lt;br&gt;
&lt;span style=&quot;font-size:9pt&quot;&gt;&lt;span minion=&quot;&quot; pro=&quot;&quot; style=&quot;font-family:&quot;&gt;&lt;b&gt;Results&lt;/b&gt;&lt;b&gt;&lt;span style=&quot;font-size:11.0pt&quot;&gt;&lt;span new=&quot;&quot; roman=&quot;&quot; style=&quot;font-family:&quot; times=&quot;&quot;&gt;: &amp;nbsp;&lt;/span&gt;&lt;/span&gt;&lt;/b&gt;The frequency of the homozygous mutant 167delT was 5.7% (4 individuals, equivalent to 8 chromosomes), with the heterozygous carriers at 75.7% (53 individuals, equivalent to 106 chromosomes), and the homozygous genotype in healthy individuals was 18.6% (13 individuals, equivalent to 26 chromosomes). In deaf individuals, the frequency of the homozygous mutant 167delT was 5.7% (4 individuals, equivalent to 8 chromosomes), the heterozygous genotype was 39.6% (27 individuals, equivalent to 54 chromosomes), and the frequency of the wild-type homozygous genotype was 4.7% (3 individuals, equivalent to 6 chromosomes). In healthy individuals, there was zero mutant genotype, 36.1% heterozygous carriers (26 individuals, equivalent to 52 chromosomes), and 13.9% wild-type homozygous (10 individuals, equivalent to 20 chromosomes).&lt;/span&gt;&lt;/span&gt;&lt;br&gt;
&lt;span style=&quot;font-size:9pt&quot;&gt;&lt;span minion=&quot;&quot; pro=&quot;&quot; style=&quot;font-family:&quot;&gt;&lt;b&gt;Conclusion&lt;/b&gt;&lt;b&gt;&lt;span style=&quot;font-size:11.0pt&quot;&gt;&lt;span new=&quot;&quot; roman=&quot;&quot; style=&quot;font-family:&quot; times=&quot;&quot;&gt;: &amp;nbsp;&lt;/span&gt;&lt;/span&gt;&lt;/b&gt;Gene mutations play a role in causing non-syndromic autosomal recessive deafness in our statistical population from Kermanshah Province. The &lt;i&gt;GJB2&lt;/i&gt; 167delT mutant is responsible for 5.7% of ARNSHL deafness in the population of Kermanshah, which differs from the rates reported in other parts of Iran.&lt;/span&gt;&lt;/span&gt;&lt;br&gt;
&amp;nbsp;</abstract>
	<keyword_fa></keyword_fa>
	<keyword>non-syndromic deafness, 167delT, GJB2 gene, ARNSHL deafness</keyword>
	<start_page>19</start_page>
	<end_page>30</end_page>
	<web_url>http://jbrms.medilam.ac.ir/browse.php?a_code=A-10-168-9&amp;slc_lang=en&amp;sid=1</web_url>


<author_list>
	<author>
	<first_name>Parivash</first_name>
	<middle_name></middle_name>
	<last_name>Bakhshipour</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>Parivash.bakhshipour@gmail.com</email>
	<code>10031947532846008308</code>
	<orcid>0009-0007-3214-8973</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Department of Biology, Sa.C., Islamic Azad University, Sanandaj, Iran</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Marzieh</first_name>
	<middle_name></middle_name>
	<last_name>Karami</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>Marzieh.Karami@iau.ac.ir</email>
	<code>10031947532846008309</code>
	<orcid>10031947532846008309</orcid>
	<coreauthor>No</coreauthor>
	<affiliation>Department of Nursing and Midwifery, Sa.C., Islamic Azad University, Sanandaj, Iran</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


	<author>
	<first_name>Fatemeh </first_name>
	<middle_name></middle_name>
	<last_name>Keshavarzi</last_name>
	<suffix></suffix>
	<first_name_fa></first_name_fa>
	<middle_name_fa></middle_name_fa>
	<last_name_fa></last_name_fa>
	<suffix_fa></suffix_fa>
	<email>gol.keshavarzi@gmail.com</email>
	<code>10031947532846008310</code>
	<orcid>10031947532846008310</orcid>
	<coreauthor>Yes
</coreauthor>
	<affiliation>Department of Biology, Sa.C., Islamic Azad University, Sanandaj, Iran</affiliation>
	<affiliation_fa></affiliation_fa>
	 </author>


</author_list>


	</article>
</articleset>
</journal>
