LOCALIZATION OF CYSTIC-FIBROSIS LOCUS TO HUMAN-CHROMOSOME 7CEN-Q22
LOCALIZATION OF CYSTIC-FIBROSIS LOCUS TO HUMAN-CHROMOSOME 7CEN-Q22
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DOI：
10.1038/318384a0
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发表时间：
1985-01-01
期刊：
影响因子：
64.8
通讯作者：
WILLIAMSON, R
中科院分区：
文献类型：
--
作者：
WAINWRIGHT, BJ;SCAMBLER, PJ;WILLIAMSON, R
Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of approximately 1 in 20. The biochemical basis of the disease is not known1, although membrane transport phenomena associated with CF have been described recently2. Consanguinity studies have shown that the inheritance of CF is consistent with it being a recessive defect caused by a mutation at a single autosomal locus3. Eiberget al.4have reported a genetic linkage between the CF locus and a polymorphic locus controlling activity of the serum aryl esterase paraoxonase (PON). The chromosomal location ofPON, however, is not known4. Linkage to a DNA probe, DOCR1-917, was also recently found at a genetic distance of ∼15 centimorgans (L.-C. Tsui and H. Donnis-Keller, personal communication), but no chromosomal localization was given. Here we report tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen–q22.
