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.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
HMBSHumanacute intermittent porphyria  IAGP DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)RGD 
HmbsRatacute intermittent porphyria  ISORGD:733095DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)RGD 
HmbsMouseacute intermittent porphyria  ISORGD:733095DNA:splice-site mutation, missense mutation:intron 9, exon 10: IVS9-1G>A, p.R201W (human)RGD 


Genes (Rattus norvegicus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Mus musculus)
Hmbs  (hydroxymethylbilane synthase)

Genes (Homo sapiens)
HMBS  (hydroxymethylbilane synthase)