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D19S51与19号染色体长臂上的强直性肌营养不良基因座紧密连锁并定位于其远端。

D19S51 is closely linked with and maps distal to the myotonic dystrophy locus on 19q.

作者信息

Tsilfidis C, MacKenzie A E, Shutler G, Leblond S, Bailly J, Johnson K, Williamson R, Siegel-Bartelt J, Korneluk R G, Shelbourne P

机构信息

Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

出版信息

Am J Hum Genet. 1991 Nov;49(5):961-5.

PMID:1928101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683251/
Abstract

Recent genetic linkage studies have mapped the myotonic dystrophy (DM) locus to 19q13.3. All closely linked DM markers identified to date have been located on the centromeric side of the disease locus, with a relatively large genetic interval (9 cM) observed between the nearest distal marker and DM. We show here that the recently described marker p134C is tightly linked to DM (peak lod score 35.8 at peak recombination fraction .006) and confirm the previous suggestion that the p134C locus, D19S51 maps distal to the disease locus. D19S51 and the closest proximal flanking loci, ERCC1 and D19S115 (pE0.8), define a small genetic interval of less than 2 cM that contains the DM locus.

摘要

最近的基因连锁研究已将强直性肌营养不良（DM）基因座定位于19q13.3。迄今鉴定出的所有紧密连锁的DM标记都位于疾病基因座的着丝粒侧，在最接近的远端标记与DM之间观察到相对较大的遗传间隔（9厘摩）。我们在此表明，最近描述的标记p134C与DM紧密连锁（在重组率峰值为0.006时峰值lod分数为35.8），并证实了先前的推测，即p134C基因座D19S51位于疾病基因座的远端。D19S51以及最接近的近端侧翼基因座ERCC1和D19S115（pE0.8）定义了一个小于2厘摩的小遗传间隔，该间隔包含DM基因座。

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本文引用的文献

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Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.人类多位点连锁分析：连锁检测与重组估计
Am J Hum Genet. 1985 May;37(3):482-98.
2
Human creatine kinase genes on chromosomes 15 and 19, and proximity of the gene for the muscle form to the genes for apolipoprotein C2 and excision repair.位于15号和19号染色体上的人类肌酸激酶基因，以及肌肉型基因与载脂蛋白C2基因和切除修复基因的邻近关系。
Am J Hum Genet. 1988 Aug;43(2):144-51.
3
Criteria for establishing the validity of genetic recombination in myotonic dystrophy.确定强直性肌营养不良症中基因重组有效性的标准。
Neurology. 1989 Mar;39(3):420-1. doi: 10.1212/wnl.39.3.420.
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Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q.19号染色体上强直性肌营养不良基因区域周围亚染色体区间的定义。
Genomics. 1989 Apr;4(3):384-96. doi: 10.1016/0888-7543(89)90346-7.
5
A reordering of human chromosome 19 long-arm DNA markers and identification of markers flanking the myotonic dystrophy locus.人类19号染色体长臂DNA标记的重新排序及强直性肌营养不良基因座侧翼标记的鉴定。
Genomics. 1989 Oct;5(3):596-604. doi: 10.1016/0888-7543(89)90028-1.
6
Recombination events that locate myotonic dystrophy distal to APOC2 on 19q.定位在19号染色体上载脂蛋白C2（APOC2）远端的强直性肌营养不良的重组事件。
Genomics. 1989 Nov;5(4):746-51. doi: 10.1016/0888-7543(89)90116-x.
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Am J Hum Genet. 1989 Jan;44(1):140-7.
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