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乙型血友病基因座中一种新的MspI限制性片段长度多态性

A new MspI restriction fragment length polymorphism in the hemophilia B locus.

作者信息

Camerino G, Oberlé I, Drayna D, Mandel J L

出版信息

Hum Genet. 1985;71(1):79-81. doi: 10.1007/BF00295673.

DOI:10.1007/BF00295673
PMID:2411652
Abstract

Using a partial cDNA probe for human coagulation factor IX, we have detected a new restriction fragment length polymorphism in human DNA digested with MspI. The frequency of the minor allele is 0.20 +/- 0.05 and average heterozygosity is about 0.32. The MspI RFLP is in strong linkage disequilibrium with the TaqI RFLP previously described, but should nevertheless be useful in segregation analysis in case of homozygosity for the TaqI minor allele.

摘要

利用人凝血因子IX的部分cDNA探针，我们在经MspI酶切的人DNA中检测到一种新的限制性片段长度多态性。次要等位基因的频率为0.20±0.05，平均杂合度约为0.32。MspI限制性片段长度多态性与先前描述的TaqI限制性片段长度多态性处于强连锁不平衡状态，但在TaqI次要等位基因纯合的情况下，它仍可用于家系分析。

相似文献

1
A new MspI restriction fragment length polymorphism in the hemophilia B locus.乙型血友病基因座中一种新的MspI限制性片段长度多态性
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2
MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection.凝血因子IX基因内的MspI多态性位点。该位点的定位及一种改进的检测方法。
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3
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4
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Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.利用与凝血因子IX基因相关的限制性酶切位点多态性进行B型血友病的携带者检测。
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引用本文的文献

1
Haemophilia A and haemophilia B: molecular insights.甲型血友病和乙型血友病：分子见解
Mol Pathol. 2002 Apr;55(2):127-44. doi: 10.1136/mp.55.2.127.
2
Haemophilia A and haemophilia B: molecular insights.甲型血友病和乙型血友病：分子见解。
Mol Pathol. 2002 Feb;55(1):1-18. doi: 10.1136/mp.55.1.1.
3
Variations among Japanese of the factor IX gene (F9) detected by PCR-denaturing gradient gel electrophoresis.通过聚合酶链反应-变性梯度凝胶电泳检测到的日本人群中凝血因子IX基因（F9）的变异。

本文引用的文献

1
Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male.脆性X智力障碍综合征与乙型血友病紧密连锁并通过正常男性传递。
Nature. 1983;306(5944):701-4. doi: 10.1038/306701a0.
2
Isolation of a human anti-haemophilic factor IX cDNA clone using a unique 52-base synthetic oligonucleotide probe deduced from the amino acid sequence of bovine factor IX.利用从牛凝血因子IX氨基酸序列推导出来的一段独特的52个碱基的合成寡核苷酸探针分离人抗血友病因子IX cDNA克隆。
Nucleic Acids Res. 1983 Apr 25;11(8):2325-35. doi: 10.1093/nar/11.8.2325.
3
Regional localization of the human factor IX gene by molecular hybridization.
Am J Hum Genet. 1993 Jan;52(1):167-75.
4
Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.采用更先进技术进行B型血友病的携带者检测和产前诊断。
Ann Hematol. 1993 Dec;67(6):289-93. doi: 10.1007/BF01696349.
5
Characterization of a set of X-linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome.一组用于人类X染色体区域定位的X连锁序列及一组体细胞杂种的特征分析。
Hum Genet. 1986 Jan;72(1):43-9. doi: 10.1007/BF00278816.
6
Population genetics of coagulant factor IX: frequencies of two DNA polymorphisms in five ethnic groups.凝血因子IX的群体遗传学：五个种族群体中两种DNA多态性的频率
Am J Hum Genet. 1987 Jun;40(6):527-36.
7
A DNA marker closely linked to the factor IX (haemophilia B) gene.一种与凝血因子IX（乙型血友病）基因紧密连锁的DNA标记。
Hum Genet. 1987 Apr;75(4):381-3. doi: 10.1007/BF00284113.
8
Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.利用DNA探针分析B型血友病（克里斯马斯病）的变异体及携带者检测。
J Clin Invest. 1987 Apr;79(4):1204-9. doi: 10.1172/JCI112938.
9
Comparison of factor IX methylation on human active and inactive X chromosomes: implications for X inactivation and transcription of tissue-specific genes.人类活性和非活性X染色体上因子IX甲基化的比较：对X染色体失活和组织特异性基因转录的影响
EMBO J. 1986 Sep;5(9):2223-9. doi: 10.1002/j.1460-2075.1986.tb04488.x.
10
MspI polymorphic site within the factor IX gene. Localization of the site and an improved method for detection.凝血因子IX基因内的MspI多态性位点。该位点的定位及一种改进的检测方法。
Hum Genet. 1987 Jul;76(3):262-4. doi: 10.1007/BF00283620.
通过分子杂交对人凝血因子IX基因进行区域定位。
Hum Genet. 1983;65(2):207-8. doi: 10.1007/BF00286666.
4
Assignment of the haemophilia B (factor IX) locus to the q26-qter region of the X chromosome.将乙型血友病（凝血因子IX）基因座定位于X染色体的q26 - qter区域。
Ann Hum Genet. 1984 May;48(2):145-52. doi: 10.1111/j.1469-1809.1984.tb01009.x.
5
The gene structure of human anti-haemophilic factor IX.人抗血友病因子IX的基因结构
EMBO J. 1984 May;3(5):1053-60. doi: 10.1002/j.1460-2075.1984.tb01926.x.
6
Genetic mapping of the human X chromosome by using restriction fragment length polymorphisms.利用限制性片段长度多态性对人类X染色体进行基因定位。
Proc Natl Acad Sci U S A. 1984 May;81(9):2836-9. doi: 10.1073/pnas.81.9.2836.
7
Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).凝血因子IX基因（B型血友病位点）在人类X染色体上的区域定位及多态性
Proc Natl Acad Sci U S A. 1984 Jan;81(2):498-502. doi: 10.1073/pnas.81.2.498.
8
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.β-珠蛋白基因簇中多态性限制性位点的非随机关联。
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
9
Exclusion of haemophilia B in male fetus by chorionic villus biopsy.通过绒毛取样排除男性胎儿的乙型血友病
Lancet. 1984 Oct 20;2(8408):932. doi: 10.1016/s0140-6736(84)90690-1.
10
Characterisation and use of an intragenic polymorphic marker for detection of carriers of haemophilia B (factor IX deficiency).用于检测B型血友病（因子IX缺乏症）携带者的基因内多态性标记的鉴定与应用
Lancet. 1984 Feb 4;1(8371):239-41. doi: 10.1016/s0140-6736(84)90122-3.