[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002 Feb;19(1):22-5.
[Article in Chinese]

Abstract

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.

Conclusion: XNP gene is not associated with the disease in the SFMS family from Shandong, China. SFMS exhibits locus heterogeneity at molecular level.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 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

Substances

  • Nuclear Proteins
  • DNA Helicases
  • ATRX protein, human
  • X-linked Nuclear Protein