genetic inheritance

遗传遗传
  • 文章类型: Case Reports
    该病例报告和文献综述的目的是表明家族性发作性疼痛综合征(FEPS)是一种非炎性遗传遗传性疼痛综合征。一个3岁的男孩出现在我们医院,他的前臂和膝盖以下的下肢疼痛超过3年。验血没有异常,血液涂片,肝肾功能检查,微量元素测试,细胞免疫试验,体液免疫试验,自身抗体测试,C反应蛋白(CRP)检测,红细胞沉降率(ESR)测试,以及肿瘤相关和骨髓细胞学检查。此外,影像学检查结果未见异常。从病人的病史来看,我们发现孩子的母亲有类似疾病的家族史。迄今为止,只有21例FEPS3是由钠电压门控通道α亚基11A(SCN11A)基因突变引起的。虽然发病年龄不同,他们中的大多数是在家庭中继承的。遗传检查结果表明,疼痛主要来自母系的遗传遗传。全外显子基因检测显示,疼痛是由SCN11A基因中c.674G>T和c.671T>C的2个杂合突变引起的。
    The purpose of this case report and literature review is to show that familial episodic pain syndrome (FEPS) is a non-inflammatory genetically inherited pain syndrome. A 3-year-old boy presented at our hospital with pain in both his forearms and lower limbs below the knees for more than 3 years. There were no abnormalities in the blood tests, blood smears, liver and kidney function tests, trace elements tests, cellular immunity test, humoral immunity test, autoantibody tests, C-reactive protein (CRP) test, erythrocyte sedimentation rate (ESR) test, and tumor-related and bone marrow cytology examinations. Additionally, the imaging examination results showed no abnormalities. From the patient\'s medical history, we found that the mother of the child had a family history of a similar disease. To date, only 21 cases of FEPS3 caused by the sodium voltage-gated channel alpha subunit 11A (SCN11A) gene mutation have been reported. Although the age of onset is different, most of them are inherited in families. The results of the genetic examination revealed that the pain mainly came from the genetic inheritance of the maternal family line. The whole exon gene test revealed that the pain was caused by 2 heterozygous mutations of c.674G > T and c.671T > C in the SCN11A gene.
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  • 文章类型: Journal Article
    Wheat stripe rust is a severe threat of almost all wheat-growing regions in the world. Being an obligate biotrophic fungus, Puccinia striiformis f. sp. tritici (PST) produces new virulent races that break the resistance of wheat varieties. In this study, 115 progeny isolates were generated through sexual reproduction on susceptible Himalayan Berberis pseudumbellata using a dominant Pakistani race (574232) of PST. The parental isolate and progeny isolates were characterized using 24 wheat Yr single-gene lines and ten simple sequence repeat (SSR) markers. From the one-hundred-and-fifteen progeny isolates, 25 virulence phenotypes (VPs) and 60 multilocus genotypes were identified. The parental and all progeny isolates were avirulent to Yr5, Yr10, Yr15, Yr24, Yr32, Yr32, YrSp, YrTr1, YrExp2, Yr26, and YrTye and virulent to Yr1, Yr2, Yr6, Yr7, Yr8, Yr9, Yr17, Yr25, Yr27, Yr28, YrA, Yr44, and Yr3. Based on the avirulence/virulence phenotypes, we found that VPs virulent to Yr1, Yr2, Yr9, Yr17, Yr47, and YrA were controlled by one dominant gene; those to YrSp, YrTr1, and Yr10 by two dominant genes; and those to YrExp2 by two complementary dominant genes. The results are useful in breeding stripe rust-resistant wheat varieties and understanding virulence diversity.
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