Ethnic differences in congenital malformations.

Terry, P. B.; Bissenden, J G; Condie, R. G.; Mathew, P

doi:10.1136/adc.60.9.866

Cited by 34 publications

(23 citation statements)

References 3 publications

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“…The best evidence of such an effect is, perhaps, from the reduced sterility and increased fertility observed in the population of Southern India (Rao and Inbaraj, 1979). On the other hand, the incidence of genetic disorders within the UK Pakistani population is significantly higher than the incidence in European Caucasians (Terry et al, 1985;Darr and Modell, 1988;Chitty and Winter, 1989;Bundey et al, 1991). Hutchesson et al (1998) determined the frequencies of the ten most common autosomal recessive inborn errors of metabolism within UK Pakistani and UK Caucasian infants.…”

Section: Reproductive Compensationmentioning

confidence: 99%

“…These findings clearly have health implications, but the estimates cannot be taken at face value on the basis that they do not correspond entirely with the sociological data. Although the consequences of consanguinity to health have been addressed in considerable detail for the UK Pakistani population (Terry et al, 1985;Chitty and Winter, 1989;Bundey et al, 1991), excess homozygosity has not been reported in other UK Asian communities, nor the different possible explanations and their implications for health, although high perinatal mortality has been recorded for UK Indians (Terry et al, 1985;Balarajan and Botting, 1989) and Bangladeshis (Bundey et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

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The effect of reproductive compensation on recessive disorders within consanguineous human populations

2002

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We investigate the effects of consanguinity and population substructure on genetic health using the UK Asian population as an example. We review and expand upon previous treatments dealing with the deleterious effects of consanguinity on recessive disorders and consider how other factors, such as population substructure, may be of equal importance. For illustration, we quantify the relative risks of recessive lethal disorders by presenting some simple calculations that demonstrate the effect 'reproductive compensation' has on the maintenance of recessive alleles. The

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Section: Reproductive Compensationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

The effect of reproductive compensation on recessive disorders within consanguineous human populations

2002

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“…It is recognised, but controversial, that consanguinity has an impact on the occurrence of these types of disorders. Congenital abnormalities have been shown to occur more often in the offspring of consanguineous parents than in the offspring of non-related parents (Terry et al 1985;Young and Clarke 1987;WHO 1996a, b;Khoury and Massad 2000). There is also an increased prenatal, perinatal and postnatal mortality in children from ethnic groups that practice consanguinity (Bittles et al 1993;Grant and Bittles 1997), which is largely attributable to an increased incidence of autosomal recessive disorders (Devi et al 1987;Bundey and Aslam 1993;Stoltenberg et al 1999;WHO 2000;Tunçbilek 2001;Mokhtari and Bagga 2003;Bittles 2003;Dawodu et al 2005).…”

Section: Introductionmentioning

confidence: 99%

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

Khan

Benson²,

MacLeod

et al. 2010

J Community Genet

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Blackburn with Darwen Primary Care Trust (PCT) provides services to a substantial Asian population in which the practice of consanguineous marriage is common and there is a high incidence of autosomal recessive disorders. The aim was to provide and evaluate a genetic service accessible to consanguineous families from the South Asian community who had a child affected by an autosomal recessive disorder. Information on genetic risk was provided along with the offer of genetic testing for members of the extended family to identify gene carriers and facilitate informed reproductive choices. An Urduspeaking health visitor was employed to establish a community-based, hospital-linked genetic service in conjunction with local paediatric and regional genetic services offered to parents who had an affected child and 71 of their relatives. The service was evaluated using a specifically designed questionnaire. There was a high uptake of the service (95% of index parents and 92% of relatives to whom it was offered) and a high uptake of carrier testing (94% of relatives to whom it was offered). Eight requests for prenatal diagnosis were made during the course of the service development. Many individuals stated they would consider genetic risk when making future marriage and reproductive plans. Input from a health care worker from the same ethnic background who provided information in their own language was highly valued. Family orientated genetic services for ethnic groups practicing consanguinity can be acceptable and effective when provided in a culturally appropriate manner.

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“…The UK Pakistani population has been studied in detail, in particular because of the clear implications a traditional consanguineous society has for recessive disorders (Terry et al 1985;Darr & Modell, 1988;Chitty & Winter, 1989;Bundey et al 1991). The results of this study suggest that simply identifying broad estimates of the proportion of consanguineous unions, along with an average coefficient of consanguinity, may provide too vague a picture of how disease incidence relates to the risk of congenital disorders.…”

Section: Relevance Of Consanguinity and Substructure To Genetic Healthmentioning

confidence: 99%

An Analysis of Consanguinity and Social Structure Within the UK Asian Population Using Microsatellite Data

Overall

Ahmad

Thomas

et al. 2003

Annals of Human Genetics

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SummaryWe analysed microsatellite genotypes sampled from the Pakistani and Indian communities in Nottingham, UK, to investigate the genetic consequences of substructuring mediated by traditional marriage customs. The application of a recently developed likelihood approach identified significant levels of population substructure within the Pakistani community as a whole, as well as within the finer divisions of castes and biradheri. In addition, high levels of cryptic or unacknowledged consanguinity were detected within subgroups of this community, including biradheri. The Indian sample showed no significant evidence of either substructure or consanguinity. We demonstrate that estimates of disease gene frequencies can be inaccurate unless they are made jointly with estimates of population substructure and consanguinity ((θ ≡ F ST ) and C). The magnitude of these estimates also highlights the importance of accounting for the finer scale of social structuring when making decisions regarding the risk of recessive disorders in offspring.

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Ethnic differences in congenital malformations.

Cited by 34 publications

References 3 publications

The effect of reproductive compensation on recessive disorders within consanguineous human populations

The effect of reproductive compensation on recessive disorders within consanguineous human populations

Developing and evaluating a culturally appropriate genetic service for consanguineous South Asian families

An Analysis of Consanguinity and Social Structure Within the UK Asian Population Using Microsatellite Data

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