Genetic impact of non-consanguineous marriages in Saudi Arabia.
نویسندگان
چکیده
Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients clinicians. The aim of this study was to estimate the hit rate non-consanguineous population. Moreover, prevalence genetic disorder both consanguineous non- population Saudi Arabia at King Abdulaziz Medical City Riyadh data. Methods: We reviewed 681 families 1563 individuals with 2,565,335 variants Abdullah International Research Center (KAIMRC) Genomic Database (KGD), Riyadh, Arabia. All ES requests were obtained from physician geneticist KAIMRC, test performed either in-house or a College American Pathologists accredited laboratory center for purposes. Results: A total 151 exome sequencing genomic database considered study. In total, 27 had disease-causing variants, 27/151 (18%). Among 28 different individuals, 50% de novo inherited. causing autosomal recessive disorders 12/28 (42.8%), dominant 13/28 (46.4%), X-linked 3/28 (10.7%). Conclusion: Non-consanguineous marriages have lower risk disorders, reducing consanguinity reduces by two three times.
منابع مشابه
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ژورنال
عنوان ژورنال: Journal of Biochemical and Clinical Genetics
سال: 2022
ISSN: ['1658-807X', '1658-8088']
DOI: https://doi.org/10.24911/jbcgenetics/183-1664872492