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Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14.

作者信息

Lunt P W, Noades J G, Upadhyaya M, Sarfarazi M, Harper P S

机构信息

Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U.K.

出版信息

J Neurol Sci. 1988 Dec;88(1-3):287-92. doi: 10.1016/0022-510x(88)90225-0.

DOI:10.1016/0022-510x(88)90225-0
PMID:3225626
Abstract

A panel of 399 individuals from 24 kindreds with facioscapulohumeral muscular dystrophy (FSHD) has been established for genetic linkage studies. A previous suggestion of linkage on the distal long arm of chromosome 14 to the locus (IGHG) for the constant region of the heavy chain of IgG immunoglobulin was tested from serum Gm allotypes and from DNA analysis using an IGHG DNA probe. After applying an age-dependent weighting for presently unaffected but at risk individuals close linkage between the IGHG and FSHD loci was excluded.

摘要

相似文献

1
Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14.
J Neurol Sci. 1988 Dec;88(1-3):287-92. doi: 10.1016/0022-510x(88)90225-0.
2
Linkage studies in facioscapulohumeral muscular dystrophy.
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X-linked and FSH dystrophies in one family.一个家族中的X连锁和FSH肌营养不良症。
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The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).与面肩肱型肌营养不良症(FSHD)相关的4号染色体q臂标记物定位
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Linkage analyses of five chromosome 4 markers localizes the facioscapulohumeral muscular dystrophy (FSHD) gene to distal 4q35.对5个4号染色体标记进行的连锁分析将面肩肱型肌营养不良(FSHD)基因定位到4q35远端。
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DNA rearrangements in Japanese facioscapulohumeral muscular dystrophy patients: clinical correlations.
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The FSHD-linked locus D4F104S1 (p13E-11) on 4q35 has a homologue on 10qter.4q35上与面肩肱型肌营养不良相关的基因座D4F104S1(p13E-11)在10qter上有一个同源物。
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Linkage localization of facioscapulohumeral muscular dystrophy (FSHD) in 4q35.面肩肱型肌营养不良症(FSHD)在4q35区域的连锁定位。
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引用本文的文献

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miRNA expression in control and FSHD fetal human muscle biopsies.对照和面肩肱型肌营养不良症(FSHD)胎儿人体肌肉活检中的微小RNA(miRNA)表达
PLoS One. 2015 Feb 18;10(2):e0116853. doi: 10.1371/journal.pone.0116853. eCollection 2015.
2
Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B.对与FSHD1B中FSHD1A相关标记发生交叉杂交的染色体区域进行排除定位。
J Med Genet. 1995 Oct;32(10):770-3. doi: 10.1136/jmg.32.10.770.
3
Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).
面肩肱型肌营养不良症(FSHD)异质性的证据。
Am J Hum Genet. 1993 Aug;53(2):401-8.
4
Chromosome 4q35 haplotypes and DNA rearrangements segregating in affected subjects of 19 Italian families with facioscapulohumeral muscular dystrophy (FSHD).19个患有面肩肱型肌营养不良(FSHD)的意大利家庭中,受影响个体的4号染色体4q35单倍型和DNA重排情况。
Hum Genet. 1994 Oct;94(4):367-74. doi: 10.1007/BF00201595.
5
A genetic linkage study of facioscapulohumeral (Landouzy-Déjérine) disease with 24 polymorphic DNA probes.一项使用24种多态性DNA探针对面肩肱型(兰杜齐-德热里纳型)肌营养不良症进行的基因连锁研究。
J Med Genet. 1989 Aug;26(8):490-3. doi: 10.1136/jmg.26.8.490.
6
Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.面肩肱型肌营养不良症脊髓性肌萎缩类型的连锁分析。
J Med Genet. 1989 Aug;26(8):487-9. doi: 10.1136/jmg.26.8.487.
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A closely linked DNA marker for facioscapulohumeral disease on chromosome 4q.4号染色体长臂上与面肩肱型肌营养不良症紧密连锁的DNA标记。
J Med Genet. 1991 Oct;28(10):665-71. doi: 10.1136/jmg.28.10.665.
8
The mapping of chromosome 4q markers in relation to facioscapulohumeral muscular dystrophy (FSHD).与面肩肱型肌营养不良症(FSHD)相关的4号染色体q臂标记物定位
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