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SstII polymorphic sites in the promoter region of the human cystatin C gene

✍ Scribed by Milagros Balbín; Magnus Abrahamson

Publisher
Springer
Year
1991
Tongue
English
Weight
239 KB
Volume
87
Category
Article
ISSN
0340-6717

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✦ Synopsis

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. One of the base substitutions results in the generation of a novel SstII restriction site and another in the loss of the commonly occurring SstII restriction site. A PCR-based assay for analysis of the two SstII sites was designed and used to demonstrate Mendelian inheritance of the polymorphism. This SstII restriction fragment lenght polymorphism offers a new probe-independent marker for chromosome 20 linkage studies.

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