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Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

Abstract：

:The still debated question of whether the expression of mental retardation in heterozygous carriers of the Martin-Bell syndrome is influenced by X inactivation has been investigated in a group of phase-known double heterozygotes for the FRA-X mutant and the G6PD Mediterranean variant. In these individuals, the number of somatic cells (fibroblasts or red cells) with an active FRA-X chromosome could be assessed through the G6PD phenotype at the single-cell level. The data reported indicate a significant inverse correlation between the IQ level (as measured by the Wechsler-Bellevue test) and the percentage of fibroblast cells with an FRA-X active chromosome. In contrast, no significant correlation was found when the IQ level and red cell data were compared, thus suggesting the occurrence of somatic selection against hematopoietic stem cells with an active FRA-X chromosome.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Rocchi M,Archidiacono N,Rinaldi A,Filippi G,Bartolucci G,Fancello GS,Siniscalco M

subject

Has Abstract

pub_date

1990-04-01 00:00:00

pages

738-43

issue

4

eissn

0002-9297

issn

1537-6605

journal_volume

46

pub_type

杂志文章

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