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低钾性周期性麻痹（低钾型周期性麻痹）中的遗传异质性。

Genetic heterogeneity in hypokalemic periodic paralysis (hypoPP).

作者信息

Plassart E, Elbaz A, Santos J V, Reboul J, Lapie P, Chauveau D, Jurkat-Rott K, Guimaraes J, Saudubray J M, Weissenbach J

机构信息

INSERM U134, Hôpital de la Salpêtrière, Paris, France.

出版信息

Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025.

DOI:10.1007/BF00211025
PMID:7959693
Abstract

Hypokalemic periodic paralysis (hypoPP) is an autosomal dominant disorder belonging to a group of muscle diseases known to involve an abnormal function of ion channels. The latter includes hypokalemic and hyperkalemic periodic paralyses, and non-dystrophic myotonias. We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3. We propose to term this locus hypoPP-1. Using extended haplotypes with new markers located on chromosome 1q31-32, we now report the detailed mapping of hypoPP-1 within a 7 cM interval. Two recombinants between hypoPP-1 and the flanking markers D1S413 and D1S510 should help to reduce further the hypoPP-1 interval. We used this new information to demonstrate that a large family of French origin displaying hypoPP is not genetically linked to hypoPP-1. We excluded genetic linkage over the entire hypoPP-1 interval showing for the first time genetic heterogeneity in hypoPP.

摘要

低钾性周期性麻痹（hypoPP）是一种常染色体显性疾病，属于一组已知涉及离子通道功能异常的肌肉疾病。后者包括低钾性和高钾性周期性麻痹以及非萎缩性肌强直。我们最近发现hypoPP与1q31 - 32染色体上的位点存在遗传连锁，该位点与二氢吡啶敏感性钙通道CACNL1A3共定位。我们提议将该位点命名为hypoPP - 1。利用位于1q31 - 32染色体上的新标记的扩展单倍型，我们现在报告了hypoPP - 1在7厘摩区间内的详细定位。hypoPP - 1与侧翼标记D1S413和D1S510之间的两个重组体应有助于进一步缩小hypoPP - 1区间。我们利用这一新信息证明，一个显示为hypoPP的法国起源的大家族与hypoPP - 1不存在遗传连锁。我们排除了整个hypoPP - 1区间的遗传连锁，首次显示出hypoPP存在遗传异质性。

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Hum Genet. 1994 Nov;94(5):551-6. doi: 10.1007/BF00211025.
2
Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.在三个欧洲家族中将低钾性周期性麻痹（HypoPP）基因座定位到1号染色体的1q31 - 32区域。
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引用本文的文献

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Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.电压传感器钠通道突变通过增强失活和减少电流导致2型低钾性周期性麻痹。
Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9549-54. doi: 10.1073/pnas.97.17.9549.
3
Genetic analysis of voltage-dependent calcium channels.电压依赖性钙通道的遗传分析

本文引用的文献

1
Genetic mapping of the beta 1- and gamma-subunits of the human skeletal muscle L-type voltage-dependent calcium channel on chromosome 17q and exclusion as candidate genes for malignant hyperthermia susceptibility.人类骨骼肌L型电压依赖性钙通道β1亚基和γ亚基在17号染色体q上的基因定位以及作为恶性高热易感性候选基因的排除。
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2
Exclusion of malignant hyperthermia susceptibility (MHS) from a putative MHS2 locus on chromosome 17q and of the alpha 1, beta 1, and gamma subunits of the dihydropyridine receptor calcium channel as candidates for the molecular defect.将17号染色体上假定的MHS2基因座排除在恶性高热易感性（MHS）之外，并排除二氢吡啶受体钙通道的α1、β1和γ亚基作为分子缺陷的候选因素。
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Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.低钾性周期性麻痹与二氢吡啶受体（CACNL1A3）：两种主要突变的基因型/表型相关性以及16个白种人家庭中无奠基者效应的证据
Am J Hum Genet. 1995 Feb;56(2):374-80.
Molecular genetic and genetic correlations in sodium channelopathies: lack of founder effect and evidence for a second gene.钠通道病的分子遗传学及遗传相关性：无奠基者效应及第二个基因的证据
Am J Hum Genet. 1993 Jun;52(6):1074-84.
4
Evidence for genetic homogeneity in autosomal recessive generalised myotonia (Becker).常染色体隐性全身性肌强直（贝克尔型）基因同质性的证据。
J Med Genet. 1993 Nov;30(11):914-7. doi: 10.1136/jmg.30.11.914.
5
A novel SCN4A mutation causing myotonia aggravated by cold and potassium.一种新的SCN4A突变，其导致的肌强直在寒冷和钾的作用下加重。
Hum Mol Genet. 1993 Sep;2(9):1349-53. doi: 10.1093/hmg/2.9.1349.
6
Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.人类骨骼肌钠通道疾病中的基因型-表型相关性
Arch Neurol. 1993 Nov;50(11):1241-8. doi: 10.1001/archneur.1993.00540110113011.
7
Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products.
Arch Neurol. 1993 Nov;50(11):1227-37. doi: 10.1001/archneur.1993.00540110101010.
8
Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.13个患有高钾性周期性麻痹和先天性副肌强直的法国家庭中肌肉钠通道基因（SCN4A）的突变：表型与基因型的相关性以及两种突变占主导地位的证明
Eur J Hum Genet. 1994;2(2):110-24. doi: 10.1159/000472351.
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Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families.在三个欧洲家族中将低钾性周期性麻痹（HypoPP）基因座定位到1号染色体的1q31 - 32区域。
Nat Genet. 1994 Mar;6(3):267-72. doi: 10.1038/ng0394-267.
10
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).托姆森病（常染色体显性先天性肌强直）的分子基础
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