Consanguinity and Occurrence of Genetic Disorders in District Attock  

作　　者：Ummara Rafi Sohail Hameed Naheed Malik Mariam Awan Shahid Baig Uzma Abdullah 

机构地区：[1]University of Wah,Wah Cantt,Pakistan [2]Pakistan Science Foundation,Islamabad [3]NIBGE,Faisalabad,Pakistan [4]PMAS Arid Agriculture University Rawalpindi,Rawalpindi,Pakistan

出　　处：《China-USA Business Review》2023年第1期20-27,共8页美中经济评论（英文版）

摘　　要：Consanguineous marriages are the marriages between blood relatives;nevertheless,it can also be referred as unions between second cousins or closer by the geneticists.Consanguinity increases the risk of congenital anomalies and autosomal recessive diseases;the closer the relationship,the higher the risk.Consanguinity is a common and preferable custom of marriage in different global communities.Consanguineous marriages have been practiced since the start of human culture.Consanguinity is major cause of occurrence of various genetic disorders in human population.It is common problem in Pakistan.The purpose of this research was to identify the families with Mendelian disorders specifically in Attock.The purpose of this research was to identify the families with Mendelian disorders specifically in Attock.Various areas of Attock have been surveyed for identification of families and most prevalent disorders were identified.Common disorders in Attock included NDM(Neuromuscular Disorder),MR(Mental Retardation),Blindness,Hearing Impairment,Microcephaly,Epilepsy,Diabetes,Familial Cancer,Albinism and one of rarely found disorder,i.e.,Ichthyosis.Families were identified using some local resources and by visiting special education institutions located in Attock.Pedigrees were drawn by the help of elder family members.The most common disorder found in the area was Blindness,secondly the Deafness and also NMD,then Microcephaly.Out of 60 families contacted about 25 families(42%)were having Blindness disorder,about nine(15%)were of microcephaly.Survey had been done to collect the samples of different Mendelian Phenotypes.The information collected for analysis include:Pedigree,Diagnosis,and Clinical Reports and contact information of family.The study will highlight the consequences of consanguineous marriages and will create awareness and might secure the future generations.

关 键 词：CONSANGUINITY NDM(Neuromuscular Disorder) MR(Mental Retardation) MICROCEPHALY EPILEPSY ICHTHYOSIS 

分 类 号：R73[医药卫生—肿瘤]