Journal article
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia
Proceedings of the National Academy of Sciences - PNAS, Vol.80(19), pp.5951-5955
10/1983
DOI: 10.1073/pnas.80.19.5951
PMCID: PMC390195
PMID: 6310605
Abstract
By using cDNA probes for the human albumin gene, four restriction enzyme fragment length polymorphisms (RFLPs) were discovered that were transmitted by codominant autosomal inheritance. Among Caucasians, the gene frequencies were 0.04/0.96 for Msp I/5', 0.43/0.57 for Hae III/3', 0.44/0.56 for Hae III/5', and 0.04/0.42/0.54 for Pst I/5'. These common variants provide a marker for chromosome 4 (q11-q13). A calculation of the extent of DNA variation at the albumin locus revealed that 1/95 nucleotide sites was affected by a RFLP, a figure similar to that found in the globin system. Restriction enzyme fragment study of the DNA of a human analbuminemic individual revealed no gross structural rearrangements of the albumin locus. The exact nature of abnormality will require more study.
Details
- Title: Subtitle
- Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia
- Creators
- J C MurrayC M DemopulosR M LawnA G Motulsky
- Resource Type
- Journal article
- Publication Details
- Proceedings of the National Academy of Sciences - PNAS, Vol.80(19), pp.5951-5955
- DOI
- 10.1073/pnas.80.19.5951
- PMID
- 6310605
- PMCID
- PMC390195
- NLM abbreviation
- Proc Natl Acad Sci U S A
- ISSN
- 0027-8424
- eISSN
- 1091-6490
- Publisher
- National Academy of Sciences; United States
- Grant note
- GM 07454 / NIGMS NIH HHS GM 15253 / NIGMS NIH HHS
- Language
- English
- Date published
- 10/1983
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025671102771
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