The Genetic Distance between the Coagulation Factor IX Gene and the Locus for the Fragile X Syndrome: Clinical Implications
作者:
ForsterC. J.,
MulliganL. M.,
PartingtonM. W.,
SimpsonN. E.,
HoldenJ. J. A.,
WhiteB. N.,
期刊:
Journal of Neurogenetics
(Taylor Available online 1985)
卷期:
Volume 2,
issue 3
页码: 231-237
ISSN:0167-7063
年代: 1985
DOI:10.3109/01677068509100152
出版商: Taylor&Francis
关键词: Key words:fragile-X syndrome–;Factor IX gene–;carrier detection
数据来源: Taylor
摘要:
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 withTaqI andXmnI, 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% (θ= 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.
点击下载:
PDF (335KB)
返 回