【摘 要】
：
X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene.In this study, we analyzed 17 male patients and 8 female carriers with X-lin
【机 构】
：
Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou
论文部分内容阅读
X-linked adrenoleukodystrophy is a common X-linked recessive peroxisomal disorder caused by the mutations in the ABCD1 gene.In this study, we analyzed 17 male patients and 8 female carriers with X-linked adrenoleukodystrophy in South China.By sequencing the ABCD1 gene, we identified 11 different mutations, including 6 novel mutations, and 5 known mutations, and 1 reported polymorphism.Mutation c.1180delG was demonstrated to be de novo mutation.We found about 29％ of the patients carried the deletion c.1415_16delAG, which may be the mutational hotpot in South China population.
其他文献
Purpose : In this essay, we explore whether CRISPR/CAS9 could correct the HBB mutation of β-Thal iPSCs.Methods: In this study, firstly, we correct the disease-causing mutations in bThal iPSCs through
目的：以与唐氏综合征(Down Syndrome,DS)患者神经系统发育相关的PRDM8(PR domain containing 8,正性调节区锌指蛋白8)为研究目标,阐释DS患者外周血中羟甲基化/甲基化修饰对该基因表达的调控作用.方法：首先建立了基于KRu04氧化、亚硫酸盐转化和焦磷酸测序技术的5羟甲基胞嘧啶(5hmC)和5甲基胞嘧啶(5mC)的定量检测方法—oxBS-pyrosequenci
目的：慢病毒载体是以慢病毒为基本骨架，经功能性删减和拆分制备而成只具备一次性感染和整合能力的病毒载体.因此，理论上慢病毒载体的基本生理特性应遗传了其来源病毒的特征.一般认为，慢病毒在感染细胞后，仅有部分骨架是以整合入染色体的形式存在的.然而，慢病毒载体是否遗传了这一特点未见文献报导.本文旨在研究慢病毒载体在感染细胞后，是否全部整合入染色体.方法：用慢病毒载体的假病毒感染293T细胞后，通过细胞传代
目的：代谢综合征主要表现为高血压、高血糖、高血脂和肥胖,然而目前关于代谢综合症患者血压升高的具体机制尚不明确.我们利用高脂饲料喂养FVB小鼠,制造代谢综合征模型,以肾脏中调节离子稳态的Na+-K+-ATP酶(Na+-K+-ATPase)、Na+/H+交换体3(NHE3)、70pS+钾通道(ROMK)、Na+-K+-2Cl-共转运体2(NKCC2)和钠氯共转运子(NCC)为研究对象,初步探讨引起代谢
目的：Cullin3、Klhl3作为E3连接酶泛素离子通道蛋白,在调节水钠平衡,进而调节血压中起重要作用.ω-羟化酶由细胞色素P450 4F2(cytochrome P450 4F2,CYP4F2)编码,在二十羟二十碳四烯酸(20-hydroxyeicosatetraenoic acid,20-HETE)的合成中起主要作用.前期研究证明CYP4F2转基因小鼠的肝、肾中呈现20-HETE合成增加.且
目的：研究细胞模型中DNA甲基化对SCA3/MJD的致病基因ATXN3的调控作用；研究DNA甲基化水平与SCA3/MJD患者的CAG重复序列拷贝数、发病年龄之间的相关性.方法：构建野生型pcDNA3.1(-)/myc-ATXN20Q质粒及突变pcDNA3.1(-)/mycATXN67Q质粒,建立SCA3转基因细胞模型；qRT-PCR和western blot分别检测ATXN3基因mRNA和atax
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in the neonatal, infancy and ch
Hepatocellular carcinoma (HCC) is the third most common cause of cancer mortality.Significantly downregulated histidine-rich glycoprotein (HRG) during the dynamic stages (WB, WB7, and WB11) of neoplas
Background: Affected by steroid 5 α-reductase type 2 deficiency (5 α-RD2) , 46, XY individuals present divergent phenotypes characterized by under-virilization of male external genitalia.To identify t
BACKGROUND: Childhood cerebral X-linked adrenoleukodystrophy is a rapidly progressive neurodegenerative disorder that affects central nervous system myelin and the adrenal cortex.Hematopoietic stem ce