Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1994-6-2
|
| pubmed:abstractText |
We have reported that 56% of French families with maturity-onset diabetes of the young (MODY) carry a mutation in the glucokinase gene (GCK). Therefore, we have established a quick and sensitive nonradioactive technique (with the PhastSystem based on single-strand conformation polymorphism [SSCP] analysis) to routinely screen the 12 exons of GCK for mutations. We have studied GCK in 12 young hyperglycemic patients with a strong family history of type II diabetes. SSCP variants were observed in 6 of those 12 patients (50%), which cosegregated with diabetes in five families where DNA from additional members was available. Direct sequencing identified a 10-bp (base pair) deletion in exon 3; a 33-bp deletion at the exon 5/intron 5 junction, including the two consensus bases (GT) of the donor splice site; a nonsense mutation in exon 5 (Arg186-->Stop) in a Black-African family, which has been identified previously in a Caucasian family; and three missense mutations: Thr209-->Met209 in exon 6, Gly261-->Glu261 in exon 7, and Arg36-->Trp36 in exon 2. The missense mutation in exon 2 was found only in the second and third generation of the tested family but not in the first. To our knowledge, this is the first time that a de novo mutation of GCK is reported within a family. All six families carrying a mutation in GCK were typical MODY and most of their affected members had a mild form of diabetes. This nonradioactive SSCP technique may be useful to routinely diagnose glucokinase deficiency, which is an important cause of hyperglycemia among young type II diabetic patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
AIM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0012-1797
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
43
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
N
|
| pubmed:pagination |
730-3
|
| pubmed:dateRevised |
2008-11-21
|
| pubmed:meshHeading |
pubmed-meshheading:8168652-Adult,
pubmed-meshheading:8168652-Age Factors,
pubmed-meshheading:8168652-Amino Acid Sequence,
pubmed-meshheading:8168652-Base Sequence,
pubmed-meshheading:8168652-Codon,
pubmed-meshheading:8168652-Diabetes Mellitus, Type 2,
pubmed-meshheading:8168652-Exons,
pubmed-meshheading:8168652-Female,
pubmed-meshheading:8168652-Genetic Variation,
pubmed-meshheading:8168652-Glucokinase,
pubmed-meshheading:8168652-Heterozygote Detection,
pubmed-meshheading:8168652-Humans,
pubmed-meshheading:8168652-Male,
pubmed-meshheading:8168652-Pedigree,
pubmed-meshheading:8168652-Point Mutation,
pubmed-meshheading:8168652-Polymerase Chain Reaction,
pubmed-meshheading:8168652-Polymorphism, Genetic,
pubmed-meshheading:8168652-Sensitivity and Specificity
|
| pubmed:year |
1994
|
| pubmed:articleTitle |
Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.
|
| pubmed:affiliation |
Human Polymorphism Study Center (C.E.P.H.-Fondation Jean Dausset, Paris, France.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|