Results 21 to 30 of about 8,125 (164)
Background – Malassezia pachydermatis (MP) is implicated in severe dermatitis and otitis externa (OE) of companion animals and recently gained attention for its increasing resistance to azole compounds. For this reason, developing novel therapeutic strategies is of great interest. In a previous work, we used reference yeast isolates to evaluate several
Costanza Spadini +11 more
wiley +1 more source
高变异Y染色体短串联重复片段检验体系的建立及对北方汉族群体调查
目的建立一套五色荧光复合扩增体系,并调查中国北方汉族遗传多态性和父子家系突变情况。方法根据文献筛查出在中国某一群体中突变率为高变异和快速变异的Y-STR基因座,建立一套五色荧光Y-STR复合扩增体系,计算在500个北方汉族无关男性个体中的基因多样性,观察每个样本的Y-STR单倍型,并对中国北方汉族500个父子对进行检测,统计父子间的突变情况。结果成功构建了包含21个Y-STR基因座复合扩增检验体系,在北方汉族群体中基因多态性在0.402 3~0.990 4之间,500个无关个体中未发现有相同的单倍型 ...
李运丽 +6 more
doaj
【目的】探讨染色体异常与习惯性流产的关系。【方法】检测47 对习惯性流产夫妇的外周血淋巴细胞染色体核 型。【结果】47 对习惯性流产夫妇中, 发现9 例染色体异常, 其中男性占5 例, 女性4 例, 包括有染色体异常(平衡易位1 例)和 染色体变异(9 号染色体臂间倒位4 例, 大Y1 例, 大Y 合并1qh +1 例, Yp+2 例)。【结论】习惯性流产除了与染色体异常有 关外, 与染色体异态性也有关联, 而与流产夫妇的性别无关。
侯红瑛 +5 more
doaj
A Case of Azoospermia Patient with a Chromosomal Abnormality Considered a Ring Y Chromosome [PDF]
A 43-year-old man came to our clinic complaining of infertility and semen analysis showed azoospermia. Analysis of chromosomes showed a mosaic 45, XO/46, X, +mar1/46, X, +mar2 karyotype, and the marker chromosomes were considered to be two kinds of ring ...
三條, 博之 +10 more
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Intragenic PNPLA1 duplication in Labrador retrievers with nonepidermolytic ichthyosis
Background – Ichthyoses represent a heterogeneous group of cornification disorders characterised by epidermal scaling. Objectives – To describe the clinical, histopathological and genetic analysis of a Labrador retriever with nonepidermolytic ichthyosis, and the results of a Labrador retriever population screening for a newly detected PNPLA1 genomic ...
Stefan J. Rietmann +7 more
wiley +1 more source
【目的】建立一套Y 染色体微缺失的多重PCR 筛查方法, 对因无精症或少精症欲行单精子卵细胞浆注射(ICSI) 治疗的男性不育患者进行Y 染色体微缺失的常规筛查。【方法】建立两套稳定和可靠的五重PCR 筛查方法, 对在本中心进行 ICSI 治疗的26 例无精症患者和61 例少精症患者进行Y 染色体微缺失的检测。【结果】在26 例无精症患者中发现1 例有Y 染色体AZFc/DAZ 的缺失, 在61 例少精症患者中发现4 例Y 染色体AZFc/DAZ 的缺失。【结论】本研究Y 染色体微缺失的 ...
于丛一, 庄广伦, 周灿权
doaj
ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis +5 more
wiley +1 more source
Complete androgen insensitivity syndrome, a pedigree gene mutation analysis [PDF]
研究背景 雄激素不敏感综合征(AndrogenInsensitivitySyndrome,AIS),是一种常见的男性假两性畸形。是伴X连锁隐性遗传病。患者染色体核型为46,XY,但其X染色体上的雄激素受体(Androgenreceptor,AR)基因存在缺陷,可致雄激素靶器官上的AR出现缺陷,体内的雄激素不能发挥相应的作用而出现相应的临床症状。此疾病可对患者的生殖能力造成不同程度的影响,还可能引发与性发育异常相关的性心理、性行为的异常,并可能给社会和患者家庭造成难以挽回的损失 ...
杨瑞娟
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男性不育患者染色体核型分析和Y染色体微缺失联合检测的分析研究
目的研究不育男性的染色体异常和Y染色体微缺失的发生率,特点、缺失类型等遗传异常情况,为临床治疗提供依据。方法回顾性分析2018年1月至2018年12月来我院就诊的男性不育患者,筛选出130例为生精障碍组,120例为配偶不良妊娠组,对照组为无生育障碍的男性60例。染色体核型分析应用G显带技术,Y染色体微缺失采用两管多重PCR扩增,4个通道(FAM/VIC/ROX/Cy5)荧光定量检测的方法,判断AZFa、AZFb、AZFc 3个区域,6个序列标签位点的微缺失。结果 130例男性生精障碍患者中,14例(10.
郑旭, 顾丽丽, 李翀, 韩燕燕
doaj
Acrosome biogenesis in a mouse mutant line with partial deletion of the Y chromosome [PDF]
Thesis (Ph. D. in Agriculture)--University of Tsukuba, (A), no.
Siruntawineti Jindawan
core

