| RRC ID |
72341
|
| 著者 |
Katsumata N, Matsuo S, Sato N, Tanaka T.
|
| タイトル |
A novel and de novo splice-donor site mutation in intron 3 of the GH-1 gene in a patient with isolated growth hormone deficiency.
|
| ジャーナル |
Growth Horm IGF Res
|
| Abstract |
Heterozygous mutations at the splice-donor site of inron 3 of the GH-1 gene are known to affect growth hormone (GH) mRNA splicing and cause isolated GH deficiency (IGHD), which is inherited in an autosomal dominant trait. We report here a novel and de novo heterozygous IVS3 + 6T --> G mutation of the GH-1 gene in a Japanese patient with IGHD. RT-PCR analyses of the GH-1 minigene transcripts demonstrated that the IVS3 + 6T --> G mutation causes complete skipping of exon 3. We found a heterozygous IVS4 + 18G --> T polymorphism of the GH-1 gene in the patient, which was shared by the father, but not by the mother. Sequencing of individual alleles of the patient's GH-1 gene confirmed that the IVS3 + 6T --> G mutation and the IVS4 + 18G --> T polymorphism exist on the same chromosome. These findings indicate that the IVS3 + 6T --> G mutation arose in a germ cell of the father and caused IGHD in the patient.
|
| 巻・号 |
11(6)
|
| ページ |
378-83
|
| 公開日 |
2001-12-1
|
| DOI |
10.1054/ghir.2001.0251
|
| PII |
S1096-6374(01)90251-5
|
| PMID |
11914025
|
| MeSH |
Adolescent
Base Sequence
DNA / genetics
DNA Mutational Analysis
Female
Haplotypes
Heterozygote
Human Growth Hormone / deficiency*
Human Growth Hormone / genetics*
Humans
Introns
Male
Microsatellite Repeats
Mutation*
Polymorphism, Genetic
RNA Splice Sites / genetics*
|
| IF |
1.618
|
| リソース情報 |
| ヒト・動物細胞 |
COS-1(RCB0143) |
