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与意大利和西班牙人群中强直性肌营养不良相关的3'肌酸激酶(M型)多态性

3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.

作者信息

Gennarelli M, Novelli G, Cobo A, Baiget M, Dallapiccola B

机构信息

Department of Public Health and Cell Biology, IInd University of Rome, Italy.

出版信息

Hum Genet. 1991 Oct;87(6):654-6. doi: 10.1007/BF00201719.

DOI:10.1007/BF00201719
PMID:1682233
Abstract

Linkage analysis and haplotype characterization for the allelic system detected at the 3' creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (zmax) of 21.26 at a recombination frequency (theta) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.

摘要

对来自意大利和西班牙的59个强直性肌营养不良(DM)家系,进行了位于3'肌酸激酶肌肉型(CKMM)基因座检测到的等位基因系统的连锁分析和单倍型特征分析。在重组频率(θ)为0.00时,发现最大对数优势分数(zmax)为21.26。未观察到DM与所检测的限制性片段长度多态性(RFLP)之间存在统计学上显著的连锁不平衡。然而,在这两个人群中,发现CKMM-TaqI和CKMM-NcoI位点之间存在显著的连锁不平衡。

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Hum Genet. 1991 Oct;87(6):654-6. doi: 10.1007/BF00201719.
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本文引用的文献

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A DNA polymorphism adjacent to the human apolipoprotein CII gene.人类载脂蛋白CII基因附近的DNA多态性。
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Isolation and sequence analysis of a full-length cDNA for human M creatine kinase.人肌肉型肌酸激酶全长cDNA的分离与序列分析
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Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.载脂蛋白C2与19号染色体上的强直性肌营养不良紧密连锁。
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Hum Genet. 1985;70(3):271-3. doi: 10.1007/BF00273455.
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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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Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM).强直性肌营养不良症与肌肉型肌酸激酶(CKMM)基因密切相关。
Hum Genet. 1989 Mar;81(4):308-10. doi: 10.1007/BF00283680.
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Report of the committee on the genetic constitution of chromosomes 18 and 19.关于18号和19号染色体遗传构成的委员会报告。
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