[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome].
OBJECTIVE
To determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.


METHODS
Polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.


RESULTS
One of the two short tandem repeats was informative in SFMS family from Shandong, China. Recombination between SFMS locus and XNP gene was observed in the SFMS family.


CONCLUSIONS
XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.
Liu
Qiji
Q
Department of Medical Genetics, School of Medicine, Shandong University, Jinan, Shandong, 250012 P. R. China. gongyaoqin@yahoo.com
Gong
Yaoqin
Y
Chen
Bingxi
B
Guo
Chenhong
C
Li
Jiangxia
J
Guo
Yishou
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D004265:DNA Helicases; D005260:Female; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D011995:Recombination, Genetic; D013577:Syndrome; D014960:X Chromosome; D000075924:X-linked Nuclear Protein
D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein