تحديد الجينات الوراثية البصرية المتعلقة بأمراض شبكية العين )Retinopathy ( الناتجة من زواج الاقارب بواسطة التحليل الجيني الجزيئي من عدة محافظات فلسطينية مختلفة.
Date
2017-05-15
Authors
محمد موسى مصطفى فلنة
mohammed mousa mostafa falanh
Journal Title
Journal ISSN
Volume Title
Publisher
AL-Quds University
جامعة القدس
جامعة القدس
Abstract
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.
Description
Keywords
الكيمياء الحيوية والاحياء الجزيئية , Biochemistry & Molecular Biology