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The structural gene for human coagulation factor X is located on chromosome 13q34.

作者信息

Scambler P J, Williamson R

出版信息

Cytogenet Cell Genet. 1985;39(3):231-3. doi: 10.1159/000132141.

DOI:10.1159/000132141
PMID:4042693
Abstract

The gene coding for coagulation factor X was studied in a family segregating chromosomal abnormalities involving chromosomes 13 and 6. An individual monosomic for 13q34 was deficient in levels of clotting factors VII and X, while her brother, who is trisomic for 13q34, had elevated levels. DNA dosage studies with a cloned human factor X gene demonstrated that the low levels of factor X expression in the individual with the chromosome 13q34 deletion were due to the absence of one copy of the factor X structural gene. This confirms the assignment of the human gene coding for factor X to 13q34.

摘要

相似文献

1
The structural gene for human coagulation factor X is located on chromosome 13q34.
Cytogenet Cell Genet. 1985;39(3):231-3. doi: 10.1159/000132141.
2
Regional mapping of clotting factors VII and X to 13q34. Expression of factor VII through chromosome 8.凝血因子VII和X在13q34区域的定位。因子VII通过8号染色体表达。
Hum Genet. 1984;66(2-3):230-3. doi: 10.1007/BF00286607.
3
Structural genes of coagulation factors VII and X located on 13q34.凝血因子VII和X的结构基因位于13号染色体长臂34区。
Ann Genet. 1986;29(1):32-5.
4
Large deletions play a minor but essential role in congenital coagulation factor VII and X deficiencies.
Hamostaseologie. 2015;35 Suppl 1:S36-42.
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Mapping of genes encoding coagulation factors VII and X to the distal portion of the 13q34 by gene dose study in a patient with r(13).通过对一名13号环状染色体(r(13))患者进行基因剂量研究,将凝血因子VII和X的编码基因定位到13q34的远端区域。
Jinrui Idengaku Zasshi. 1989 Sep;34(3):247-50. doi: 10.1007/BF01900729.
6
Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.先天性凝血因子 VII 和 X 联合缺乏症——不同的遗传机制。
Haemophilia. 2015 May;21(3):386-391. doi: 10.1111/hae.12604. Epub 2015 Jan 13.
7
Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13.
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8
Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.排除人类染色体13q34作为囊性纤维化突变位点。
Am J Hum Genet. 1986 Apr;38(4):567-72.
9
Congenital FX deficiency combined with other clotting defects or with other abnormalities: a critical evaluation of the literature.先天性FX缺乏合并其他凝血缺陷或其他异常:文献的批判性评价
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10
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide.因意外摄入敌鼠酮类灭鼠剂导致联合遗传性因子 VII 和因子 X 缺乏患者的诊断错误
Clin Lab. 2016 Nov 1;62(11):2253-2256. doi: 10.7754/Clin.Lab.2016.160503.

引用本文的文献

1
A model system for the analysis of gene exclusion: cystic fibrosis and chromosome 19.用于基因排除分析的模型系统:囊性纤维化与19号染色体
J Med Genet. 1986 Oct;23(5):417-20. doi: 10.1136/jmg.23.5.417.
2
DNA analysis in human disease.人类疾病中的DNA分析。
J Clin Pathol. 1986 Dec;39(12):1281-95. doi: 10.1136/jcp.39.12.1281.
3
Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9.通过体细胞杂种和蛋白质C的cDNA探针将其定位到2号染色体,将因子X定位到13号染色体,将α1-酸性糖蛋白定位到9号染色体。
Hum Genet. 1986 Sep;74(1):30-3. doi: 10.1007/BF00278781.
4
RFLPs for PstI and EcoRI in the human blood clotting factor X gene.人类凝血因子X基因中PstI和EcoRI的限制性片段长度多态性
Nucleic Acids Res. 1986 Jun 25;14(12):5118. doi: 10.1093/nar/14.12.5118.
5
Diagnosis of genetic disease using recombinant DNA.使用重组DNA诊断遗传疾病。
Hum Genet. 1986 May;73(1):1-11. doi: 10.1007/BF00292654.
6
Exclusion of human chromosome 13q34 as the site of the cystic fibrosis mutation.排除人类染色体13q34作为囊性纤维化突变位点。
Am J Hum Genet. 1986 Apr;38(4):567-72.
7
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism.
Hum Genet. 1991 Jan;86(3):273-8. doi: 10.1007/BF00202408.