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1.
Iranian Rehabilitation Journal. 2015; 13 (3): 64-68
in English | IMEMR | ID: emr-181105

ABSTRACT

Objectives: Hearing loss [HL] is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, [ARNSHL]. In Iran, HL is one of the most common disabilities due to consanguineous marriages. The aim was to investigate the prevalence of three new ARHL genes [GJB4, GJC3, and SLITRK6] reported in neighboring countries among Iranian families with ARNSHL.


Methods: One hundred unrelated families with at least two affected siblings in consanguineous marriage, who were negative for GJB2 gene mutations, were selected. By using three STR markers for each gene, homozygosity mapping was performed.


Results: Two families showed linkage to GJB4, six families were linked to GJC3 and only one family linked to SLITRK6. The samples of these families who showed linkage were sent for Sanger sequencing to detect the causative mutations. However, after analyzing the sequencing results, no mutation could be detected in either of the families. Molecular analysis for these nine families is underway in order to determine the pathogenic mutations using whole exome sequencing.


Discussion: These data demonstrate a very low prevalence of mutation in these three genes [GJB4, GJC3, and SLITRK6] in the Iranian population, since no mutation was detected in our study group of 100 families.

2.
Acta Medica Iranica. 2014; 52 (5): 352-359
in English | IMEMR | ID: emr-159581

ABSTRACT

Coronary artery disease [CAD] is the leading cause of mortality in many parts of the world. Genome-wide association studies [GWAS] have identified several genetic variants associated with CAD in Low-density lipoprotein receptor [LDLR] locus. This study was evaluated the possible association of genetic markers at LDLR locus with CAD irrespective to lipid profile and as well as the association of these SNPs with severity of CAD in Iranian population. Sequencing of 2 exons in LDLR gene [Exon 2, 12] and part of intron 30 of SMARCA4 gene include rs1122608, was performed in 170 Iranian patients angiographically confirmed CAD and 104 healthy controls by direct sequencing. Sullivan's scoring system was used for determining the severity of CAD in cases. Our results showed that homozygote genotypes of rs1122608 [P<0.0001], rs4300767 [P<0.005] and rs10417578 [p<0.007] SNPs have strong protective effects on the CAD. In addition, we found that rs1122608 [GT or TT] was at higher risk of three vessel involvement compared to single vessels affecting [P=0.01]

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