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The genetic distance between the coagulation factor IX gene and the locus for the fragile X syndrome: clinical implications.
J Neurogenet ; 2(3): 231-7, 1985 Jun.
Article em En | MEDLINE | ID: mdl-3860635
ABSTRACT
In 3 families with the fragile-X [fra(X)] syndrome, we have identified a minimum of 4 recombinations in 9 meioses between the syndrome locus and the coagulation Factor IX gene. Two Factor IX intragenic restriction fragment length polymorphisms (RFLPs), produced with TaqI and XmnI, were used as markers. In lod score calculations, incomplete penetrance of the fra(X) mutation in males and females was taken into account by the computer program LIPED. The cumulative maximum lod score calculated from these data and from data previously reported was 2.75 at a recombination frequency of 20% (theta = 0.20). This indicates that the genetic distance between the Factor IX gene and the fra(X) locus is too great for Factor IX probes to be used alone for carrier detection in the fra(X) syndrome. Additional polymorphic loci more tightly linked to the fra(X) syndrome locus are required.
Assuntos
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Base de dados: MEDLINE Assunto principal: Aberrações dos Cromossomos Sexuais / Fator IX / Síndrome do Cromossomo X Frágil Idioma: En Ano de publicação: 1985 Tipo de documento: Article
Buscar no Google
Base de dados: MEDLINE Assunto principal: Aberrações dos Cromossomos Sexuais / Fator IX / Síndrome do Cromossomo X Frágil Idioma: En Ano de publicação: 1985 Tipo de documento: Article