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A two allele DNA polymorphism of the human phenylethanolamine N-methyltransferase (hPNMT) gene identified by HGIA I

Journal Article · · Nucleic Acids Research; (UK)
DOI:https://doi.org/10.1093/nar/17.2.828· OSTI ID:5229436
;  [1];  [2]
  1. NIMH, Bethesda, MD (USA)
  2. Univ. of Washington, Seattle (USA)
An 8 kb DNA fragment (Eco RI) of the human phenylethanolamine N-methyltransferase gene (hPNMT), selected from a 14 kb Eco RI fragment isolated from a lambda Charon 3A human lymphocyte genomic library and subcloned into pUC18, was used as a probe. This human genomic fragment contained the first 1,923 bp of 5{prime} flanking DNA, the hPNMT structural gene spanning 2,070 bp in total (composed of three exons (225, 208, 524 bp) and two introns (1,000 and 113 bp)), and 3.8 kb of 3{prime} flanking DNA (1). Hybridization of human genomic DNA digested with HgiA I identifies a two allele polymorphism with bands at 3.0 kb (A) and 2.5 kb (B). The hPNMT gene has been assigned to chromosome 17. Co-dominant segregation in two families with two generations was observed. The number of meioses scorred was 18.
OSTI ID:
5229436
Journal Information:
Nucleic Acids Research; (UK), Journal Name: Nucleic Acids Research; (UK) Vol. 17:2; ISSN 0305-1048; ISSN NARHA
Country of Publication:
United States
Language:
English