Closing in on the cystic fibrosis gene(s)
Closing in on the cystic fibrosis gene(s)
复制标题
接近囊性纤维化基因
DOI：
10.1164/arrd.1985.132.6.1149
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Klinger,KW
中科院分区：
文献类型：
--
作者：
Fisher,JH;Klinger,KW
Cystic fibrosis (CF), the most common lethal genetic disease in this country, affects one of every 2,000 live births (1). Epidemiologic data support a recessive single gene defect as the most likely etiology of the disease (2). However, both the commonly observed clinical heterogeneity of CF and the unexpectedly high frequency ofthe lethal recessive CF gene with no obvious selective advantage for heterozygotes have led to the proposal that alternative mechanisms of inheritance are possible (3). If cystic fibrosis is indeed a single gene defect, it should be possible to assign the gene to a specific single chromosomal 10-cation. The importance of such an assignment has been realized since the early days of cystic fibrosis research, and several immediate benefits can be ex-. pected from the successful completion of this endeavor. Knowledge of the chromosomallocation of the gene can be used to develop diagnostic tests for use in families in which the disease has already occurred. Applying these tests to prenatal diagnosis would undoubtedly help many families with one affected child who wish to avoid having another affected child: Additionally, in these families it could be determined which unaffected siblings were carriers of the gene. The impact of such tests can be appreciated when it is considered that one of every twenty individuals is a carrier of the gene, and thus in one of every four hundred families there is a risk for producing a child affected with cystic fibrosis (2). This is especially true when one considers the limitations of current supportive therapy for CF. Additionally, the current medical care of cystic fibrosis is extremely expensive, averaging $12,000 per year per individual (4). Given that there are at least 25,000 patients with CF in the United States alone, this translates into an average medical cost to the economy of 300 million dollars per year (5). Clearly, current therapy for cystic fibrosis, although significantly improved from that of a decade ago, is neither optimally effective nor is it inexpensive. Mapping the cystic fibrosis gene to a specific chromosomal
