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Population cytogenetics of autosomal fragile sites

Population cytogenetics of autosomal fragile sites Received 16 October, accepted f o r publication 21 October 1986 Key words: Autosomes; fragile sites; population survey. Sirs, Recently we (Petit et al. 1986) reported a population chromosomal survey for autosoma1 fragile sites under conditions of folate deprivation in 405 mental retardates. The incidence of autosomal folate sensitive fragile sites was more than 20 times greater than in newborns (Sutherland & Hecht 1985). As this study was not controlled it was still not clear whether there was an association between these autosomal fragile sites and mental retardation. During the last year we were able to investigate two other populations: a new sample of 400 individuals with non-specific mental retardation and 200 mentally normal females. All females were possible or obligate marker X heterozygotes, as they belonged to families with X-linked mental retardation and marker X. As in the previous study, lymphocytes from these indi- viduals were cultured in TC medium. Chromosomes were G- and R-banded. Each culture was scored for the Xq27 fragile site and the chromosomes were similarly scored for autosomal fragile sites. The relative frequencies of specific folate sensitive autosoma1 fragile sites are given in and compared to previous data. The frequency of folate sensitive http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

Population cytogenetics of autosomal fragile sites

Clinical Genetics , Volume 31 (1) – Jan 1, 1987

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References (7)

Publisher
Wiley
Copyright
1987 Blackwell Munksgaard
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1111/j.1399-0004.1987.tb02768.x
Publisher site
See Article on Publisher Site

Abstract

Received 16 October, accepted f o r publication 21 October 1986 Key words: Autosomes; fragile sites; population survey. Sirs, Recently we (Petit et al. 1986) reported a population chromosomal survey for autosoma1 fragile sites under conditions of folate deprivation in 405 mental retardates. The incidence of autosomal folate sensitive fragile sites was more than 20 times greater than in newborns (Sutherland & Hecht 1985). As this study was not controlled it was still not clear whether there was an association between these autosomal fragile sites and mental retardation. During the last year we were able to investigate two other populations: a new sample of 400 individuals with non-specific mental retardation and 200 mentally normal females. All females were possible or obligate marker X heterozygotes, as they belonged to families with X-linked mental retardation and marker X. As in the previous study, lymphocytes from these indi- viduals were cultured in TC medium. Chromosomes were G- and R-banded. Each culture was scored for the Xq27 fragile site and the chromosomes were similarly scored for autosomal fragile sites. The relative frequencies of specific folate sensitive autosoma1 fragile sites are given in and compared to previous data. The frequency of folate sensitive

Journal

Clinical GeneticsWiley

Published: Jan 1, 1987

Keywords: Autosomes; fragile sites; population survey

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