Literature DB >> 11836680

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

Qiji Liu1, Yaoqin Gong, Bingxi Chen, Chenhong Guo, Jiangxia Li, Yishou Guo.   

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.

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Year:  2002        PMID: 11836680

Source DB:  PubMed          Journal:  Zhonghua Yi Xue Yi Chuan Xue Za Zhi        ISSN: 1003-9406


  1 in total

1.  Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation.

Authors:  Yongxin Zou; Qiji Liu; Bingxi Chen; Xiyu Zhang; Chenhong Guo; Haibin Zhou; Jiangxia Li; Guimin Gao; Yishou Guo; Chuanzhu Yan; Jianjun Wei; Changshun Shao; Yaoqin Gong
Journal:  Am J Hum Genet       Date:  2007-01-25       Impact factor: 11.025

  1 in total

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