تحديد الجينات الوراثية البصرية المتعلقة بأمراض شبكية العين )Retinopathy ( الناتجة من زواج الاقارب بواسطة التحليل الجيني الجزيئي من عدة محافظات فلسطينية مختلفة.
Screening for three mutations of genetic disorders in consanguineous Palestinian families with retinopathy
محمد موسى مصطفى فلنة
mohammed mousa mostafa falanh
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Consanguinity is a deeply rooted cultural trait in Middle Eastern societies, especially in the Arab rural populations due to socio-cultural factors like maintenance of family structure, property or ease of marital arrangements.Thus Autosomal recessive retinitis pigmentosa genes are highly associated with consanguineous families. The prevalence of autosomal hereditary recessive diseases is high in Middle Eastern Arab societies, mainly due to the high rate of consanguineous marriages. In clinical genetics, this includes relationships of second cousins or closer. we designed an ARMS (Amplification ‐ Refractory Mutation System ) technique for the three autosomal recessive genes FAM161, CNGA3, and CRB1.In this study we developed an ARMS technique for the three autosomal recessive genes FAM161, CNGA3, and CRB1 in 18 Palestinian families with consanguinious marriages.We succeeded in designing cheaper methods for detecting these genes. ARMS is a simple method for detecting any mutation involving single base changes or small deletions. ARMS is based on the use of sequence‐specific PCR primers that allow amplification of target DNA sequence only when the target allele is contained within the sample. ARMS allows genotyping solely by inspection of reaction mixtures after agarose gel electrophoresis. The system is simple, reliable and non-isotopic. It will clearly distinguish heterozygotes at a locus from homozygotes for either allele. It is a economicapproach that can use standard laboratory equipment. Another use is the identification of SNPs restriction fragment length polymorphism (RFLP), in which a difference in homologous DNA sequences can be detected by the presence of fragments of different lengths after digestion of the DNA samples in question with specific restriction endonucleases. The presence or absence of the restriction site can be determined by agarose gel electrophoresis of the digested fragments and visualization using ethidium bromide staining and ultraviolet (UV) illuminationDuring the study period, 18 families with ophthalmological diseases on a consanguineous background in Arab villages of Palestine were recruited , and ARMS technique used to identify genetic mutations. Two mutations out of the three propsed could be identified : FAM161 (c.1003C>T/p.R335X), CNGA3 (c.985G>T ‐ Gly329Cys) and CRB1 gene wasn‘t identifed by this technique. The results demonstrate that we succeeded in designing a cheap and timesaving method for detecting these genes.