Scambler P, Oyen O, Wainwright B, Farrall M, Law H Y, Estivill X, Sandberg M, Williamson R, Jahnsen T
Department of Biochemistry, St. Mary's Hospital Medical School, University of London, England.
Am J Hum Genet. 1987 Nov;41(5):925-32.
Cystic fibrosis (CF) is a common autosomal recessive disease with significant morbidity and mortality. Defects in cAMP control mechanisms are implicated in the pathophysiology of the disease. The mutation causing CF has been localized to chromosome 7q22-7q31.1. We have used (1) somatic-cell hybrids containing this region of the human genome in a mouse background and (2) segregation analysis in families to exclude both the genes coding for a catalytic subunit and three distinct regulatory subunits of cAMP-dependent protein kinase as candidates for the gene defect in CF. Two of these genes--those for the human homologue of the mouse type I regulatory subunit and the human homologue of the rat type II regulatory subunit--map to human chromosome 7.
囊性纤维化（CF）是一种常见的常染色体隐性疾病，具有较高的发病率和死亡率。环磷酸腺苷（cAMP）调控机制缺陷与该疾病的病理生理学有关。导致CF的突变已定位到7号染色体的7q22 - 7q31.1区域。我们利用（1）在小鼠背景中含有该人类基因组区域的体细胞杂种，以及（2）对家族进行分离分析，排除了编码cAMP依赖性蛋白激酶催化亚基和三个不同调节亚基的基因作为CF基因缺陷的候选基因。其中两个基因——小鼠I型调节亚基的人类同源基因和大鼠II型调节亚基的人类同源基因——定位于人类7号染色体。
