Function of the C−36 to T polymorphism in the human cholecystokinin gene promoter
✍ Scribed by Hansen, T V O; Rehfeld, J F; Nielsen, F C
- Book ID
- 110059172
- Publisher
- Nature Publishing Group
- Year
- 2000
- Tongue
- English
- Weight
- 307 KB
- Volume
- 5
- Category
- Article
- ISSN
- 1359-4184
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📜 SIMILAR VOLUMES
By direct sequencing of polymerase chain reaction (PCR) amplified DNA from different individuals, three point mutations have been found in a 220-bp fragment from the promoter region of the human cystatin C gene. The three mutations are all localized within a short segment of 85bp on the same allele.
Genetic variations in the 5-untranslated region and the coding region of the CCK-B receptor (CCK-BR) gene were investigated in healthy controls. Novel variants (-215 C→A, Leu37Phe, Arg319Glu) were found in addition to the mutations (Val125Iso, His207His, Arg215His, 2491 C→A) reported previously. In