期刊
GENOMICS
卷 79, 期 4, 页码 553-559出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1006/geno.2002.6741
关键词
X chromosome; duplication; hypopituitarism; gene dosage; X-linked
We have identified a novel interstitial duplication at Xq26.1-q27.3 in a previously reported family with X-linked recessive hypopittfitarism [1]. Mapping of the duplication was carried out using interphase FISH analysis of over 60 bacterial genomic clones from Xq25-q28. The proximal and distal breakpoints of the duplication are contained within the 432N13 and 91018 clones, respectively, and are separated by approximately 9 Mb. Comparison with a recently published 13-Mb duplication in another XH family [2] indicated that the duplication breakpoints in these families were different. Therefore, we conclude that X-linked hypopituitarism is caused by increased dosage of a gene that is critical for pituitary development and that the causative gene is located within the 9-Mb duplicated region that we have defined.
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