PURPOSE This study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS Two consanguineous families affected with autosomal recessive RP were identified from the Punjab Province of Pakistan. All affected individuals underwent a thorough ophthalmologic examination. Blood samples were collected, and gen...

Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and o...

Deafness is a complete or partial loss of hearing. In Pakistan, the prevalence of this order is high as compared to the other countries because of frequent consanguineous marriages in Pakistan. During present study, DFNB49 was mapped in two unrelated consanguineous families having multiple affected individuals. The maximum LOD score was found 4.71 and 2.74 for PKDF1069 & PKDF751 respectively. T...

Marriage between close biological relatives is generally regarded with suspicion and distaste within Western society, reflecting historical and religious prejudice. By comparison, in many other populations there is a strong preference for consanguineous unions, most frequently contracted between first cousins, and marriage outside the family is perceived as a risky and disruptive option. The in...

Background: Consanguineous marriage is a tradition habit in Arab countries leading to higher rates of autosomol recessive genetic disorders. Aim the study: to study the influence premarital counseling regarding consanguineous on knowledge and attitude among university student s. Methods: A quasi experimental design was used. Setting: The was conducted (Faculty Nursing Ain Shams Universi...

Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In  Iran, HL is one of the most common disabilitie...

OBJECTIVE To investigate the rate of neural tube defects (NTDs) and their relation to gender, maternal age, consanguineous marriage, season, and drug consumption in Birjand, Iran. METHODS This research was carried out on 16,785 live or stillborn newborns in Birjand, Iran from April 1997 to December 2001. RESULTS The rate of NTDs was 2.97 per 1000. This rate was 1.97 per 1000 in males, and 3...

Although the recent Pakistan Demographic and Health Survey (DHS) show that two-thirds of marriages in Pakistan are consanguineous, the sociocultural determinants of such marriages remain largely unexplored. This paper examines the relative importance of the three commonly perceived reasons for such marriages: religious, economic and cultural. The analysis is based on qualitative data collected ...

INTRODUCTION Mental retardation (MR) has heterogeneous aetiology mostly with genetic causes. Chromosomal aberrations are one of the most common causes of MR. Reports on chromosome abnormality rate among consanguineous families are sparse. In order to identify the chromosome abnormality rate in idiopathic mental retardation from consanguineous marriages, a total of 322 Iranian families with posi...

Autosomal recessive retinitis pigmentosa (arRP) is the commonest form of RP worldwide. To date 22 loci have been implicated in the pathogenesis of this disease; however none of these loci independently account for a significant proportion of recessive RP. Linkage studies of arRP in consanguineous families have been mainly based on homozygosity mapping, but this strategy cannot be applied in the...