RGD Reference Report - Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. - Rat Genome Database

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Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles.

Authors: Lundin, G  Wedell, A  Thunell, S  Anvret, M 
Citation: Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
RGD ID: 19165358
Pubmed: PMID:8270256   (View Abstract at PubMed)
DOI: DOI:10.1007/bf00218914   (Journal Full-text)

Acute intermittent porphyria (AIP) is attributable to defects in the porphobilinogen deaminase (PBGD) gene. Two new mutations have been found in the PBGD gene in Swedish families. The first is a G to A splice mutation in the last position of intron 9. A screening method using allele-specific amplification has been designed for the rapid detection of this mutation. The second mutation is a C to T substitution in exon 10, changing Arg201 to Trp. This mutation can be detected by restriction enzyme cleavage.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute intermittent porphyria  IAGP 19165358DNA:splice-site mutation more ...RGD 
acute intermittent porphyria  ISOHMBS (Homo sapiens)19165358; 19165358DNA:splice-site mutation more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Mus musculus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Homo sapiens)
HMBS  (hydroxymethylbilane synthase)


Additional Information