LOCALIZATION OF X-LINKED HYPOPHOSPHATEMIC RICKETS GENE
X连锁低磷酸盐性佝偻病基因的定位
基本信息
- 批准号:2194423
- 负责人:
- 金额:$ 7.83万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:1992
- 资助国家:美国
- 起止时间:1992-07-01 至 1997-06-30
- 项目状态:已结题
- 来源:
- 关键词:cell line chromosome walking family genetics gene deletion mutation gene mutation genetic disorder diagnosis genetic library genetic mapping genetic markers genetic polymorphism genetic transcription human genetic material tag human subject hypophosphatasia linkage mapping molecular cloning nucleic acid hybridization nucleic acid probes nucleic acid sequence polymerase chain reaction protein structure function pulsed field gel electrophoresis radiotracer restriction fragment length polymorphism sex chromosomes sex linked trait southern blotting vitamin D resistant rickets
项目摘要
X-linked hypophosphatemic rickets (XLHR) is the most common inherited
form of rickets. XLHR is an X-linked dominant disorder since
heterozygous females are also affected. There is a great deal of
variability in the expression of XLHR. This project is based upon the
hypothesis that there are a number of different mutations, including
deletions, among individuals with XLHR. The overall goal of this project
is to further characterize the XLHR locus, and to identify the gene that
is abnormal in this disease.
The XLHR gene locus has been mapped to X(p22.1-p22.2). The aim of Phase
I of this project is to develop a detailed (1cM resolution) physical map
of this region and to begin to identify mutations in affected
individuals. Markers spanning the X(p22.1-p22.2) region will be
generated from an X chromosome library, and will be ordered using pulsed
field gel electrophoresis. Large deletions in affected individuals will
be identified, if present, using the map. If no large deletions are
identified, tighter linkage of the markers generated to the XLHR locus
will be established using traditional RFLP techniques.
The aim of Phase II of this project is to identify the abnormal gene in
XLHR. If a deletion is found in one or more affected patients, the
search for the gene will begin in that region. If no deletions are
detected, a jumping library will be generated consisting of CpG-rich
areas, regions of putative gene transcription. Chromosomal walking will
proceed from these regions to localize the XLHR gene. In order to verify
that a given DNA sequence could be a candidate gene, the sequence will
be hybridized against mammalian DNA from several different species, to
tissue-specific RNA, and to tissue-specific CDNA libraries. The long-
range goal is to characterize the function of the XLHR gene and its
protein product.
x连锁低磷血症佝偻病(XLHR)是最常见的遗传性疾病
项目成果
期刊论文数量(0)
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科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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INGRID A HOLM其他文献
INGRID A HOLM的其他文献
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{{ truncateString('INGRID A HOLM', 18)}}的其他基金
ENVIRONMENTAL AND GENETIC DETERMINANTS OF PUBERTY
青春期的环境和遗传决定因素
- 批准号:
7607277 - 财政年份:2007
- 资助金额:
$ 7.83万 - 项目类别:
CROSS-SECTIONAL OBSERVATIONAL STUDY OF LOW BONE MASS IN THALASSEMIA
地中海贫血低骨量的横断面观察研究
- 批准号:
7380725 - 财政年份:2006
- 资助金额:
$ 7.83万 - 项目类别:
CROSS-SECTIONAL OBSERVATIONAL STUDY OF LOW BONE MASS IN THALASSEMIA
地中海贫血低骨量的横断面观察研究
- 批准号:
7204697 - 财政年份:2005
- 资助金额:
$ 7.83万 - 项目类别:
Cross-Sectional Observation Study of Low Bone Mass in Thalassemia
地中海贫血低骨量的横断面观察研究
- 批准号:
6975171 - 财政年份:2004
- 资助金额:
$ 7.83万 - 项目类别:
CHARACTERISTICS--GENES RESPONSIBLE FOR FAMILIAL HYPOPHOSPHATEMIC RICKETS
特征——导致家族性低磷酸盐性佝偻病的基因
- 批准号:
6120821 - 财政年份:1998
- 资助金额:
$ 7.83万 - 项目类别:
CHARACTERISTICS--GENES RESPONSIBLE FOR FAMILIAL HYPOPHOSPHATEMIC RICKETS
特征——导致家族性低磷酸盐性佝偻病的基因
- 批准号:
6220601 - 财政年份:1998
- 资助金额:
$ 7.83万 - 项目类别:
CHARACTERISTICS--GENES RESPONSIBLE FOR FAMILIAL HYPOPHOSPHATEMIC RICKETS
特征——导致家族性低磷酸盐性佝偻病的基因
- 批准号:
6281440 - 财政年份:1997
- 资助金额:
$ 7.83万 - 项目类别:
LOCALIZATION OF X-LINKED HYPOPHOSPHATEMIC RICKETS GENE
X连锁低磷酸盐性佝偻病基因的定位
- 批准号:
2194425 - 财政年份:1992
- 资助金额:
$ 7.83万 - 项目类别:
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