Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome.
- Author:
Qiji LIU
1
;
Yaoqin GONG
;
Bingxi CHEN
;
Chenhong GUO
;
Jiangxia LI
;
Yishou GUO
Author Information
- Publication Type:Journal Article
- MeSH: Abnormalities, Multiple; genetics; Craniofacial Abnormalities; genetics; DNA Helicases; Female; Genetic Linkage; Growth Disorders; genetics; Humans; Intellectual Disability; genetics; Male; Muscle Hypotonia; genetics; Nuclear Proteins; genetics; Pedigree; Phenotype; Polymorphism, Genetic; Recombination, Genetic; Syndrome; X Chromosome; X-linked Nuclear Protein
- From: Chinese Journal of Medical Genetics 2002;19(1):22-25
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the linkage between Smith-Fineman-Myers syndrome (SFMS) and X-linked nuclear protein(XNP) locus.
METHODSPolymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to genotype two polymorphic short tandem repeats within XNP gene.
RESULTSOne 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.
CONCLUSIONXNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.
