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莫氏综合征A(黏多糖贮积症IVA型)基因定位于16q24.3。

The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

作者信息

Baker E, Guo X H, Orsborn A M, Sutherland G R, Callen D F, Hopwood J J, Morris C P

机构信息

Department of Cytogenetics and Molecular Genetics, Adelaide Children's Hospital, Australia.

出版信息

Am J Hum Genet. 1993 Jan;52(1):96-8.

Abstract

The gene for N-acetylgalactosamine-6-sulfatase, the deficiency of which results in Morquio A syndrome (mucopolysaccharidosis type IVA), was assigned to chromosome 16 at band q24.3 by fluorescence in situ hybridization. Localization of this band was confirmed by PCR analysis of a somatic cell hybrid panel used for fine mapping of chromosome 16.

摘要

N-乙酰半乳糖胺-6-硫酸酯酶的基因,其缺乏会导致莫尔基奥A综合征(IVA型黏多糖贮积症),通过荧光原位杂交被定位到16号染色体q24.3带。通过对用于16号染色体精细定位的体细胞杂交板进行PCR分析,证实了该带的定位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a0e4/1682100/d03832946fd4/ajhg00059-0102-a.jpg

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