Abstract Background Hearing loss/deafness is a common otological disorder found in the Pakistani population due to high prevalence of consanguineous unions, but full range genetic causes still unknown. Methods A large kindred with hearing loss was studied. Whole-exome sequencing and Sanger were performed search for candidate gene underlying disease phenotype. minigene assay reverse transcriptio...

OBJECTIVE To investigate the influence of consanguineous marriage on male factor infertility in Lebanon, where rates of consanguineous marriage remain high (29.6% among Muslims, 16.5% among Christians). DESIGN Clinic-based, case-control study, using reproductive history, risk factor interview, and laboratory-based semen analysis. SETTING Two IVF clinics in Beirut, Lebanon, during an 8-month...

To determine the prevalence of consanguineous marriages and estimate the effects of consanguinity on reproductive behaviour and mortality, household and hospital-based surveys were conducted in 11 cities in the Pakistan province of Punjab between 1979 and 1985. The 9520 women interviewed reported 44,474 pregnancies, with data collected on maternal and paternal ages at marriage, abortions/miscar...

Concentrations of lymphocytotoxic antibodies were measured in serum samples from 19 patients recently diagnosed as having type I diabetes and 43 healthy relatives (33 consanguineous and 10 non-consanguineous). The specificity of the reaction was tested at 15 degrees C and 37 degrees C against T lymphocytes and purified helper/inducer and cytotoxic/suppressor subsets. The concentrations of lymph...