Are there fibroblast growth factor receptor I mutations in a Chinese Kallmann syndrome family

Are there fibroblast growth factor receptor I mutations in a Chinese Kallmann syndrome family

The present study examined 58 members of a Kallmann syndrome family and investigated whether there are fibroblast growth factor receptor 1 （FGFR1） gene mutations in this family. Genomic DNA from the proband and family members was subjected to PCR to amplify 18 exons of FGFR1, and the amplified produ...

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Veröffentlicht in:中国神经再生研究：英文版 2011, Vol.6 (20), p.1570-1574
1. Verfasser: Min Liu Yuling He Ping＇an Hu
Format: Artikel
Sprache:eng
Schlagworte:
PCR扩增
中国
基因突变
基因组DNA
家庭成员
成纤维细胞生长因子受体
扩增产物
综合征
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description The present study examined 58 members of a Kallmann syndrome family and investigated whether there are fibroblast growth factor receptor 1 （FGFR1） gene mutations in this family. Genomic DNA from the proband and family members was subjected to PCR to amplify 18 exons of FGFR1, and the amplified products were sequenced to identify potential mutations. MRI of the olfactory bulb region was performed on suspected subjects. The patient and his father were diagnosed with Kallmann syndrome. A polymorphic site was found at 39542, with the proband and his parents being heterozygous （guanine ＋ cytosine）. However, healthy controls and the other members of this family were homozygous for guanine at this position.
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source Medknow Open Access Medical Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; Alma/SFX Local Collection
subjects PCR扩增
中国
基因突变
基因组DNA
家庭成员
成纤维细胞生长因子受体
扩增产物
综合征
title Are there fibroblast growth factor receptor I mutations in a Chinese Kallmann syndrome family
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