Background: The high consanguinity in Middle East increases the risk of genetic diseases, including primary immunodeficiency diseases (PID). Objectives: This study was aimed at determining the rate of positive family history of PID, the overall rate and type of consanguinity, and their effects on delay age during diagnosis of PID. Materials and methods: A retrospective analysis was conducted on...

The sharing of genetic information following the diagnosis of a genetic condition can be important for managing familial risks for genetic conditions. This paper explores factors that impede or facilitate the sharing of genetic information within a sample of British Pakistani families. It draws from research investigating understandings of genetics and inheritance, attitudes to prenatal diagnos...

Recent studies have examined the influence on patterns of human genetic variation of a variety of cultural practices. In India, centuries-old marriage customs have introduced extensive social structuring into the contemporary population, potentially with significant consequences for genetic variation. Social stratification in India is evident as social classes that are defined by endogamous gro...

BACKGROUND We have investigated a strategy for identifying and counseling carriers of recessively inherited disorders in developing countries where consanguineous marriage is common. In such communities, gene variants are trapped within extended families, so that an affected child is a marker of a group at high genetic risk. METHODS Fifteen large Pakistani families, 10 with a history of a hem...

OBJECTIVES The aims of the study were to determine the prevalence, types and socio-economic correlates of consanguineous marriages in Iran, and to gauge the extent to which consanguinity influenced fertility, pregnancy outcomes and the expression of genetic disorders in the present-day population. METHODS Data on the prevalence of consanguinity and birth outcomes in the first marriages of 5,5...

1 have responded to the recurrent debates in the UK media about the pros and cons of cousin marriage? 2–5 He would surely have examined the key facts (Table 1), as well as exposing any dishonest tricks of an argument; he would also have pointed out that it is wise to avoid language which alienates some participants. A senior UK scientist recently spoke about first cousin marriages 2 , and refer...

Background: The frequency of pyruvate kinase (PK) deficiency, an autosomal recessive defect, is approximately 3 per 10,000 individuals in Shiraz and surrounding areas, and is increased due to high consanguinity marriage frequency. The purpose of this study is to obtain data on the frequency and spectrum of gene mutation of PK in newborns, from Shiraz and surrounding areas. Materials and Methods...

The ability of chromosome microarray analysis (CMA) to detect submicroscopic genetic abnormalities has revolutionized the clinical diagnostic approach to individuals with intellectual disability, neurobehavioral phenotypes, and congenital malformations. The recognition of the underlying copy number variant (CNV) in respective individuals may allow not only for better counseling and anticipatory...

Genetic counseling remains the best and the most efficient action for genetic diseases prevention. Based on families’ education, and sometimes followed by prenatal or preimplantation diagnosis, genetic counseling is relevant by reducing the incidence of hereditary and congenital disorders. The development of medical care, the accumulation of laboratory techniques and the legality of pregnancy t...