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(L773:0340 6717 OR L773:1432 1203) pers:(Abrahamson Magnus)
 

Search: (L773:0340 6717 OR L773:1432 1203) pers:(Abrahamson Magnus) > Sst II polymorphic ...

Sst II polymorphic sites in the promoter region of the human cystatin C gene

Balbin, Milagros (author)
Abrahamson, Magnus (author)
Lund University,Lunds universitet,Avdelningen för klinisk kemi och farmakologi,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Chemistry and Pharmacology,Department of Laboratory Medicine,Faculty of Medicine
 (creator_code:org_t)
1991
1991
English.
In: Human Genetics. - 1432-1203. ; 87:6, s. 751-752
  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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 85 bp 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)

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Balbin, Milagros
Abrahamson, Magn ...
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MEDICAL AND HEALTH SCIENCES
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and Medical Genetics
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Human Genetics
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Lund University

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