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[Recombination between the fragile site Xq27 and the gene for coagulation factor IX].

作者信息

Landoulsi A, de Blois M C, Guérin P, Rethoré M O, Lejeune J, Lucotte G

出版信息

Ann Genet. 1985;28(4):201-5.

PMID:3879429
Abstract

Using the Taq I restriction polymorphism of a factor IX probe, we analysed the segregation of this gene and that of the fragile site Xq27. The ancestor of this family was a healthy carrier male. Of twelve informative meioses, at least four recombinations were detected. The hypothesis of a particular instability of the distal part the long arm of the X chromosome is reconsidered.

摘要

相似文献

1
[Recombination between the fragile site Xq27 and the gene for coagulation factor IX].
Ann Genet. 1985;28(4):201-5.
2
DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3.与Xq27.3处脆性位点相关的X连锁智力障碍的DNA研究。
Ups J Med Sci Suppl. 1987;44:155-64.
3
From hemophilia B to hemophilia A via the fragile X locus: genes and recombination in the distal region of the human X chromosome long arm.从乙型血友病经脆性X位点到甲型血友病：人类X染色体长臂远端区域的基因与重组
Horiz Biochem Biophys. 1986;8:51-89.
4
Linkage and recombination between fragile X-linked mental retardation and the factor IX gene.脆性X连锁智力迟钝基因与凝血因子IX基因之间的连锁和重组
Hum Genet. 1985;69(1):44-6. doi: 10.1007/BF00295528.
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An Esp Pediatr. 1982 Dec;17(6):466-74.
6
Two brothers with mental retardation discordant for the fragile-X syndrome.
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7
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation.
Am J Med Genet. 1985 Aug;21(4):709-17. doi: 10.1002/ajmg.1320210413.
8
[X chromosome-linked mental retardation with fragile X chromosome and macro-orchidism].伴有脆性X染色体和巨睾症的X连锁智力障碍
Schweiz Med Wochenschr. 1983 Feb 19;113(7):238-44.
9
The genetic distance between the coagulation factor IX gene and the locus for the fragile X syndrome: clinical implications.凝血因子IX基因与脆性X综合征位点之间的遗传距离：临床意义。
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10
The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.脆性X综合征I：男性淋巴细胞中具有脆性位点的比例的家族性差异。
Am J Med Genet. 1984 Jan;17(1):241-52. doi: 10.1002/ajmg.1320170115.

引用本文的文献

1
Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present.两姐妹在Xq26/Xq27界面处存在远端缺失：DNA研究表明存在IX因子的基因座。
Hum Genet. 1987 May;76(1):54-7. doi: 10.1007/BF00283050.
2
Multilocus analysis of the fragile X syndrome.脆性X综合征的多位点分析。
Hum Genet. 1988 Mar;78(3):201-5. doi: 10.1007/BF00291662.
3
Further evidence for genetic heterogeneity in the fragile X syndrome.脆性X综合征基因异质性的进一步证据。
Hum Genet. 1987 Apr;75(4):311-21. doi: 10.1007/BF00284100.