Mutation in Phospholipase C, ?′1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

AK Khan; SA Khan; Na Muhammad; No Muhammad; J Ahmad; H Nawaz; A Nasir; S Farman; S Khan

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Mutation in Phospholipase C, ?′1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

机译：磷脂酶C，α'1（PLCD1）基因的突变是Pashtun家族遗传性白内障的基础，并有文献综述

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Human hereditary leukonychia is a rare nail disorder characterized by nail plates whitening on all finger and toe nails. Inheritance pattern is both autosomal dominant and recessive. To date, the only gene, phospholipase C, ?′1 (PLCD1), on chromosome 3p22.2 has been reported to be involved in hereditary leukonychia. In the present study, a family of Pakhtun ethnicity, carrying leukonychia phenotype was investigated. The family inherited the phenotype in an autosomal dominant fashion. Affected individuals exhibited characteristic features of hereditary leukonychia with involvement of nails on both the hands and feet. Sequence analysis of DNA detected a p.Cys209Arg mutation, reported for the first time in a Pakistani Pashtun family.

机译：人类遗传性白内障是一种罕见的指甲疾病，其特征是指甲板在所有手指和脚趾指甲上均会变白。遗传模式是常染色体显性和隐性遗传。迄今为止，据报道，染色体3p22.2上唯一的基因磷脂酶C，α'1（PLCD1）与遗传性白内障有关。在本研究中，调查了携带白喉表型的Pakhtun族。该家族以常染色体显性方式遗传了该表型。受影响的个体表现出遗传性白喉的特征性特征，手和脚上都有指甲。 DNA的序列分析检测到p.Cys209Arg突变，这是巴基斯坦Pashtun家族首次报道。

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《Balkan journal of medical genetics: BJMG》 |2018年第1期|共4页
作者
AK Khan; SA Khan; Na Muhammad; No Muhammad; J Ahmad; H Nawaz; A Nasir; S Farman; S Khan;
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中图分类遗传学;
关键词
LeukonychiaMutationPashtun familyPhospholipase Cδ1 (PLCD1) gene;

机译：白喉病突变Pashtun家族磷脂酶Cδ1（PLCD1）基因;

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1. MUTATION IN PHOSPHOLIPASE C, delta 1 (PLCD1) GENE UNDERLIES HEREDITARY LEUKONYCHIA IN A PASHTUN FAMILY AND REVIEW OF THE LITERATURE [J] . Khan A. K., Khan S. A., Muhammad Na, Balkan journal of medical genetics: BJMG . 2018,第1期

机译：磷脂酶C，Delta 1（PLCD1）基因的突变在帕什屯家族中解除了遗传性白血病，并对文献进行了审查
2. Mutation analysis of the SLC4A11 gene in Indian families with congenital hereditary endothelial dystrophy 2 and a review of the literature [J] . Kapoor Saketh, Kodaganur Srinivas Gopinath, Kumar Arun, Molecular vision . 2013,第2013期

机译：先天性遗传性内皮营养不良2的印度家庭中SLC4A11基因的突变分析和文献综述
3. Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family [J] . Yoshida Kazue, Hayashi Ryota, Shimomura Yutaka, The Journal of dermatology . 2017,第8期

机译：新型杂合性突变，C.74C> G（p.pro25arg），在U2HR基因下是日本家庭的Marie Unna遗传性腹腔病
4. HEREDITARY AMYLOIDOSIS IN A SPANISH FAMILY ASSOCIATED WITH A NOVEL NONSTOP MUTATION IN THE GENE FOR APOL1POPROTEIN All [C] . D. Rowczenio, J.A. Gilbertson, A. Bybee, International Symposium on Amyloidosis . 2005

机译：西班牙家庭的遗传性淀粉样蛋白病与Apol1poprotein基因中的一种新的非级别突变相关
5. The Role of Reproductive Risk Factors in Hereditary Breast Cancer Within BRCA Mutation Carriers: Systematic Review and Meta-Analysis [D] . Springer, Tamara. 2021

机译：BRCA突变载体中生殖危险因素在遗传性乳腺癌中的作用：系统评价和荟萃分析
6. Mutation in Phospholipase C δ1 (PLCD1) Gene Underlies Hereditary Leukonychia in a Pashtun Family and Review of The Literature [O] . AK Khan, SA Khan, Na Muhammad, 2018

机译：磷脂酶Cδ1（PLCD1）基因的突变是普什图家族遗传性白内障的基础和文献综述
7. Mutation in Phospholipase C, δ1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature [O] . AK Khan, SA Khan, Na Muhammad, 2018

机译：磷脂酶C，δ1（PLCD1）基因在Pashtun家族中解除遗传性Leukonychia的突变，并对文献进行审查

Mutation in Phospholipase C, ?′1 (PLCD1) gene underlies hereditary leukonychia in a Pashtun family and review of the literature

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