A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23

Karan Kalpita R.; Satishchandra Parthasarthy; Sinha Sanjib; Anand Anuranjan

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A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23

机译：通过与热水图与染色体接触沉淀的感觉癫痫的遗传基因座，染色体9p24.3-p23

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Hot water epilepsy (HWE) is a rare form of sensory epilepsy where seizures are precipitated by a stimulus of contact with hot water. While earlier studies have suggested causal role of genes for HWE, specific underpinnings are beginning to be explored only recently. We carried out a whole genome-based linkage analysis in a family where most of its members affected by HWE and found evidence of a previously unknown locus at chromosome 9p24.3-p23. Parametric two-point analysis suggested linkage with the greatest LOD score of 3.42 for the marker D9S286 at 9p24.1 at recombination fraction (theta) = 0, 90% penetrance value and 1% phenocopy rate. The highest multipoint LOD score of 3.42 was obtained for same marker at 9p24. The critical genetic interval of about 10 Mb of DNA was defined by the markers D9S917 and D9S168 corresponding to the centromere-distal and centromere-proximal recombination boundaries, respectively. This observation along with our previous findings of hot water genetic loci at 10q21.3-q22.3 (OMIM: 613339) and 4q24-q28 (OMIM: 613340), indicates unanticipated genetic heterogeneity for the disorder in families from a relatively small geographic region in the southern parts of India.

机译：热水癫痫（HWE）是一种罕见的感官癫痫形式，癫痫发作是通过与热水接触的刺激而沉淀。虽然早期的研究提出了HWE基因的因果作用，但最近只能探索具体的内限。我们在一个家庭中进行了全基于基因组的联系分析，其中大多数由HWE影响的大多数成员，并发现染色体9p24.3-p23的先前未知轨迹的证据。参数两点分析表明，在重组级分（θ1）的9p24.1时，在9p24.1的标记D9s286中的最大LOD得分为3.42的连杆。在9P24的同一标记中获得了3.42的最高多点LOD评分。通过对应于焦粒子远端和偏心近代重组边界的标记物D9S917和D9S168定义约10mb DNA的临界遗传间隔。该观察与我们之前的热水遗传基因座的发现在10Q21.3-Q22.3（OMIM：613339）和4Q24-Q28（OMIM：613340）中，表明来自相对较小的地理区域的家庭中的疾病的意外遗传异质性在印度南部。

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来源
《Journal of genetics》 |2018年第2期|共8页
作者
Karan Kalpita R.; Satishchandra Parthasarthy; Sinha Sanjib; Anand Anuranjan;
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作者单位

Jawaharlal Nehru Ctr Adv Sci Res Mol Biol &

Genet Unit Bengaluru 560064 India;

Natl Inst Mental Hlth &

Neurosci Dept Neurol Bengaluru 560029 India;

Natl Inst Mental Hlth &

Neurosci Dept Neurol Bengaluru 560029 India;

Jawaharlal Nehru Ctr Adv Sci Res Mol Biol &

Genet Unit Bengaluru 560064 India;

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正文语种 eng
中图分类遗传学;
关键词
sensory epilepsy; seizures; genetic heterogeneity; linkage mapping;

机译：感觉癫痫;癫痫发作;遗传异质性;联动映射;

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1. A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23 [J] . KALPITA R. KARAN, PARTHASARTHY SATISHCHANDRA, SANJIB SINHA, Journal of genetics . 2018,第2期

机译：通过接触热水沉淀的感官性癫痫的遗传基因位点映射到9p24.3-p23染色体
2. A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3. [J] . Satishchandra Parthasarthy, Kumar S Dilip, Gadre Girish, Human Genetics . 2009,第5a6期

机译：染色体10q21.3-q22.3处热水图沉淀的常染色体显性反射性癫痫发作的位点。
3. A locus for autosomal dominant reflex epilepsy precipitated by hot water maps at chromosome 10q21.3-q22.3 [J] . Rinki Ratnapriya, Parthasarthy Satishchandra, S. Dilip Kumar, Human Genetics . 2009,第5a6期

机译：染色体10q21.3-q22.3处的热水图沉淀的常染色体显性反射性癫痫发作的基因座
4. A genome-wide linkage and a haplotype association studies mapped intracranial aneurysm to elastin locus on chromosome 7 [C] . Ituro Inoue, Hideaki Onda, Hidetoshi Kasuya, Hirosaki International Forum of Medical Science . 2003

机译：全基因组连杆和单倍型关联研究在染色体7中映射颅内动脉瘤至弹性蛋白基因座
5. Development of a map-based cloning system in Sorghum bicolor: 1. Isolation of megabase-size DNA and construction of a bacterial artificial chromosome library and 2. Genetic and physical mapping of the 5S rDNA locus. [D] . Woo, Sung-Sick. 1996

机译：双色高粱基于图谱的克隆系统的开发：1.分离碱基大小庞大的DNA和构建细菌人工染色体文库，以及2. 5S rDNA基因座的遗传和物理作图。
6. Genetic and Physical Mapping of the Progressive Epilepsy with Mental Retardation (EPMR) Locus on Chromosome 8p [O] . Susanna Ranta, Anna-Elina Lehesjoki, Aune Hirvasniemi, -1

机译：遗传和物理映射的智力迟缓（EPMR）进行性癫痫的染色体8p。
7. Figure 1: Example of visualization of long range contacts for: (A) regions, here enhancer-promoter contacts, for two 10 kb resolution Hi-C maps from human Fetal Brain cells. Contacts were calculated up to 30 bins distance each way from the point of interest. Top to bottom: a Jbrowse (Skinner et al., 2009) screenshot with genes and interaction profile representation (points of interest in green, their contact predictions in yellow); HiCEnterprise interaction profile plot with intensities (weighted by distance) and −log10 of FDR corrected p-values (q-values) with a threshold set at 0.01. (B) TADs, here HiCEnterprise visualization for 150 kb resolution Hi-C map of 17th chromosome from HUVEC. Left upper trianle: original Hi-C map contact frequencies; right lower triangle: −log10 of q-values of the interdomain interactions calculated with hypergeometric distribution. [O] . -1

机译：图1：用于：（a）区域的长距离触点的可视化示例，这里增强了来自人胎儿脑细胞的两个10kb分辨率的Hi-C地图。从兴趣点计算联系人高达30个距离距离。顶部到底：jbrowse（Skinner等，2009）截图，具有基因和互动曲线表示（绿色兴趣点，它们的黄色接触预测）; HICENTERPLISE交互配置曲线图具有强度（由距离加权）和FDR校正的P值（Q值）的-LOG10，其阈值设置为0.01。（b）TADS，这里是来自Huvec的第17次染色体的150 KB分辨率Hi-C地图的Hicenterprise可视化。左上三角：原版Hi-C地图接触频率;右下三角形：跨度相互作用的Q值的-log10计算，使用超几何分布计算。
8. Qualitative Analysis of Mouse Specific-Locus Mutations: Information on Genetic Organization, Gene Expression, and the Chromosomal Nature of Induced Lesions [R] . Russell, L. B. 1982

机译：小鼠特异性基因座突变的定性分析：诱导损伤的遗传组织，基因表达和染色体性质的信息

A genetic locus for sensory epilepsy precipitated by contact with hot water maps to chromosome 9p24.3-p23

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