PMID- 1301948
OWN - NLM
STAT- MEDLINE
DCOM- 19930610
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 1
IP  - 5
DP  - 1992
TI  - CRIM-positive mutations of acute intermittent porphyria in Finland.
PG  - 392-6
AB  - Acute intermittent porphyria (AIP) is a dominantly inherited metabolic disease 
      caused by a partial deficiency of the third enzyme, porphobilinogen deaminase 
      (PBGD), in the heme biosynthetic pathway. AIP has been divided into two subtypes 
      according to the ratio of enzyme polypeptide concentration and enzyme activity 
      measured in erythrocytes: cross-reacting immunologic material (CRIM) positive or 
      negative. In this study six out of the seven known CRIM-positive AIP families in 
      Finland were analyzed and two also previously identified mutations in the PBGD 
      gene were found to be responsible for AIP in this genetically isolated 
      population. The search for mutations was focused on exon 10 based on previously 
      found mutations. SSCP analysis revealed a known polymorphism but the two 
      mutations in that region were found only by direct sequencing of the PCR 
      products. A G518-->A substitution changing Arg173 to Gln was found in three 
      families and a C499-->T substitution changing Arg167 to Trp was detected in three 
      families. DNA analyses of the family members revealed that conventional assays of 
      erythrocyte PBGD activity identified correctly only 72% of the carriers for the 
      AIP mutation.
FAU - Kauppinen, R
AU  - Kauppinen R
AD  - Third Department of Medicine, University Central Hospital of Helsinki, Finland.
FAU - Peltonen, L
AU  - Peltonen L
FAU - Pihlaja, H
AU  - Pihlaja H
FAU - Mustajoki, P
AU  - Mustajoki P
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9007-49-2 (DNA)
RN  - EC 2.5.1.61 (Hydroxymethylbilane Synthase)
SB  - IM
GS  - PBGD
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cross Reactions
MH  - DNA/genetics
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Finland
MH  - Humans
MH  - Hydroxymethylbilane Synthase/*genetics/immunology
MH  - Introns
MH  - Molecular Sequence Data
MH  - Porphyria, Acute Intermittent/diagnosis/*enzymology/*genetics
EDAT- 1992/01/01 00:00
MHDA- 1992/01/01 00:01
CRDT- 1992/01/01 00:00
PHST- 1992/01/01 00:00 [pubmed]
PHST- 1992/01/01 00:01 [medline]
PHST- 1992/01/01 00:00 [entrez]
AID - 10.1002/humu.1380010508 [doi]
PST - ppublish
SO  - Hum Mutat. 1992;1(5):392-6. doi: 10.1002/humu.1380010508.