1994 Fiscal Year Final Research Report Summary
One base substitution within GH gene in familial isolated growth hormone deficiency type II
| Project/Area Number |
05670713
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| Research Category |
Grant-in-Aid for General Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Kurume University |
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Principal Investigator |
YUKIZANE Shigenori Kurume Univ., School of Medicine, assistant professor, 医学部, 講師 (20210586)
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| Co-Investigator(Kenkyū-buntansha) |
NISHIYORI Atsusi Kurume Univ., School of Medicine, research assistant, 医学部, 助手 (30218226)
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| Project Period (FY) |
1993 – 1994
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| Keywords | Isolated growth hormone deficiency type II / Growth hormone gene / One base substitution |
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| Research Abstract |
Familial isolated growth hormone deficiency (IGHD) can be inherited as an autosomal dominant (IGHD II) trait. The molecular alterations underlying IGHD II remain unclear. To investigate the molecular basis of IGHD II,we studied the GH gene for the Japanese family with IGHD II.In the family, mother, daughter and son were affected and the treatment of the hGH for daughter and son was efficaious during the course of investigation. After cloning of PCR amplification product (2153bp) from genomic DNA of an affected son, Double stranded sequencing demonstrated heterozygosity for a T * G transvertion in the 6655th codon of the exon V.This substitution converts a GTG (Val) to a GGG (Gly) codon and abolished a BgII recognition site. Nested PCR amplification of the GH gene of the family members (parents, daughter, son) and 16 normal control, followed by BgII digestion, revealed that the T * G transvertion segregated with the IGHD phenotype. This is the first report of one base substitution within the exon of GH gene in the patients with IGHD II.
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