Document Detail


Mutations and DNA diagnoses of classical citrullinemia.
MedLine Citation:
PMID:  9090528     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Classical citrullinemia is an autosomal recessive disease caused by a genetic deficiency of argininosuccinate synthetase (ASS). We have previously identified 20 mutations in ASS mRNA of human classical citrullinemia and already established the DNA diagnosis of seven mutations as follows. By Southern blot analysis, each of the alleles with exon 5 or 6 deletion in mRNA appears to involve deletion of genomic DNA from this region. Five mutations involving R304W, G324S, IVS-6(-2) (delta Ex7), IVS-13(+5) (delta Ex13), and delta 13 bp/Ex15&IVS-15 (ins37 b/Ex15&16) are diagnosed by a combination of PCR (or modified PCR) and restriction enzyme digestion. It is important to identify the mutation in genomic DNA for prenatal diagnosis and carrier detection. In the present study, we report a novel missense mutation (R279Q) and a new abnormality in the ASS gene (delta 11 bp/IVS-15). As three missense mutations (R272C, R279Q, and G280R) were found in exon 12, we isolated and sequenced the intron regions surrounding exon 12 to establish a DNA diagnostic test. Although a mutation with a deletion of the first seven bases in exon 16 of mRNA (delta 7 b/Ex16) was found in both Japanese and American patients, the abnormality on the ASS gene was different between the Japanese allele (delta 11 bp/IVS-15) and American allele (IVS-15(-1)). The DNA diagnosis of 47 Japanese alleles with classical citrullinemia showed that the IVS-6(-2) and R304W mutations were found in 49% and 17% of the mutated alleles, respectively. We now have DNA diagnosis systems to detect 14 out of 22 mutations and are performing prenatal diagnosis and carrier detection using genomic DNA on classical citrullinemia.
Authors:
H Kakinoki; K Kobayashi; H Terazono; Y Nagata; T Saheki
Related Documents :
22456618 - The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression.
9895128 - Frame-shift mutation in hormone binding domain of human androgen receptor gene causes c...
2288878 - A single cys706 to phe substitution in the retinoblastoma protein causes the loss of bi...
19929428 - Exclusion of mutations in the dysferlin alternative exons 1 of dysf-v1, 5a, and 40a in ...
22213068 - Recurrent deletions of the tnfsf7 and tnfsf9 genes in 19p13.3 in diffuse large b-cell a...
23261798 - Rapid detection of the s247n neuraminidase mutation in influenza a(h1n1)pdm09 virus by ...
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Human mutation     Volume:  9     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1997  
Date Detail:
Created Date:  1997-06-17     Completed Date:  1997-06-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  250-9     Citation Subset:  IM    
Affiliation:
Department of Biochemistry, Faculty of Medicine, Kagoshima University, Japan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Amino Acid Metabolism, Inborn Errors / diagnosis,  ethnology,  genetics*
Argininosuccinate Synthase / deficiency*,  genetics*
Asian Continental Ancestry Group / genetics
Blotting, Southern
Citrulline / blood*
DNA / analysis
DNA Mutational Analysis
DNA Restriction Enzymes
Exons
Female
Genetic Testing
Heterozygote
Humans
Infant
Mutation*
Polymerase Chain Reaction
Pregnancy
RNA, Messenger / analysis
Chemical
Reg. No./Substance:
0/RNA, Messenger; 372-75-8/Citrulline; 9007-49-2/DNA; EC 3.1.21.-/DNA Restriction Enzymes; EC 6.3.4.5/Argininosuccinate Synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Frequency of RET mutations in long- and short-segment Hirschsprung disease.
Next Document:  Novel HEXA mutation in a Bedouin Tay-Sachs patient associated with exon skipping and reduced transcr...