Warda Fatima1 , Shahida Hasnain1 , Saqib Mahmood2
...and unemployed. Parental consanguinity was another important determinant studied and was identified that three of four offsprings of cousin marriage were schizophrenic. It was concluded from the present study that along with inherited nature of schizophrenia importance of shared environment cannot be ruled out. There is an urgent need to educate general population about the consequences of disorder so that people take it cautiously and it may treated early and...
Shoaib ur Rehman1, Jabbar Khan2*, Raaza Malja Khan3, Maimoona Azam4 and Zeeshan Mutahir5
...ations, their frequency, consanguinity in parents and inheritance pattern in patients of Karak region, Khyber Pakhunkhwa (KP) province, Pakistan. During the study, 200 peripheral blood samples were collected both from families having at least one transfusion dependent child and sporadic patients from different areas of karak region. Using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique, all samples were analyzed for ...
Neelam Saba and Saba Irshad*
...and its association with consanguinity in congenital cataract cases was also studied. This study was conducted on 192 cases of congenital and acquired cataract presented at LRBT Hospital and Mughal Eye Hospital, Lahore (March 2016-September 2019). Children under 15 years of age (mean age=2.2 ± 1.03 years) and diagnosed with congenital or acquired cataract were included in the study. Among 192 cases of cataract 166 were of congenital and 26 were of acqui...
Ejaz Ali and Nageen Hussain*
... due to a higher rate of consanguinity and Hearing Loss (HL) is one of them that affects more than 466 million people worldwide; will increase to 900 million by 2050. GJB2 mutation is one of the main causes of hearing loss in different populations, including Pakistan, that encodes a gap junction protein involved in the homeostasis of the inner ear by recycling potassium ion. This research aimed to find out mutations in the GJB2 gene and its protein structure. ...
Muhammad Ikram Ullah
...istani population due to consanguinity. The combination of next-generation sequencing has facilitated the identification of genes in complex disorders like alpha-mannosidosis....
