Objective to detect mutations of the RP2 gene in two Chinese families with X linked retinitis pigmentosa (XLRP).
目的检测引起2个家系产生X连锁视网膜色素变性的RP2基因突变。
The molecular diagnosis for X linked adrenoleukodystrophy (ALD) using mutational analysis at genomic DNA level is important.
在基因组DNA水平，应用基因突变分析的方法对肾上腺脑白质营养不良进行分子诊断十分重要。
Objective To appraise the clinical features, diagnosis and treatment of juvenile idiopathic arthritis (JIA) with X Linked Agammaglobulinemia (XLA).
目的探讨x连锁无丙种球蛋白血症(XLA)合并幼年特发性关节炎(JIA)的临床表现、诊断和治疗的特点。
Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia.
ALAS2基因的可遗传突变是人类X连锁铁粒幼细胞性贫血的原因。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
In a new study, researchers propose that Henry had an X-linked genetic disorder and a rare blood type that could explain many of his problems.
在一项新研究中，科研人员推断亨利八世的X染色体遗传障碍和罕见血型是导致其状况频发的罪魁祸首。
The methylation of histone H3-K27 was proved to be linked to several silencing phenomena including homeotic-gene silencing, X inactivation and genomic imprinting.
组蛋白H3第27位赖氨酸的甲基化与同源盒基因沉默、X染色体失活、基因印记等基因沉默现象有关；
Female mosaicism of the X chromosome has major implications for human health and disease and is the leading cause of female protection from X-linked genetic disorders.
女性作为X染色体的杂合子在人类的健康与疾病中及重要作用，并可避免X连锁遗产性疾病在女性中发生。
A variety of approaches have been used to address this issue, the most common of which is the study of tumors in women, who are heterozygous for X-linked marker enzymes.
一系列的方法已被用来探讨这个问题，其中一个最常用的方法是研究女性肿瘤，她们是X连锁标记酶杂合子。
Like other X-linked disorders such as color blindness and muscular dystrophy, genetic mutation causing a son's infertility could be passed from his mother.
像色盲，肌营养不良等X连锁的疾病一样，由遗传突变导致的不育可以从母亲传给儿子。
The issuing date of the document is linked to the pre-printed "on board" notation, which specifically refers to intended vessel X.
单据的出具日期与预先印就的“装船”批注是联系在一起的，批注明确提到了预期船y船。
Medically, the condition is called X-linked Severe Combined Immunodeficiency (X-SCID).
在医学上，这种情况称为X连锁重症联合免疫缺陷(X - SCID)。
This is an X-linked deficiency of one of the enzymes in the urea cycle.
这是一个X染色体缺陷导致的尿素循环酶缺乏症之一。
Objective To improve the recognition and diagnosis of X-linked hypophosphatemia (XLH).
目的提高对X -连低磷酸盐血症的认识和诊断。
Objective Using molecular biological method to determine the inherited modal of a family which was considered as X-linked high myopia by pedigree analysis.
目的应用分子生物学方法判定经家系分析初步认定为X连锁遗传的高度近视家系的遗传方式。
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype.
目的探讨X-连锁迟发性脊椎骨骺发育不良（SEDL）基因逃避X染色体失活（XCI）及与临床表型的关系。
Objective to identify the disease locus in X - linked retinitis pigmentosa (XLRP) families using genetic linkage analysis.
目的应用遗传连锁分析方法对X连锁型视网膜色素变性家系进行分析，确定其致病基因的所在位点。
Objective To investigate the clinical manifestations, diagnostic methods and treatment of X-linked agammaglobulinemia(XLA).
目的探讨X-连锁无丙种球蛋白血症的临床表现、诊断方法和治疗。
Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy (X-ALD) patients and 2 cases of their mothers.
目的对5例x -连锁肾上腺脑白质营养不良(X -ALD)患儿及其中2例的母亲进行ABCD 1基因突变分析。
The absence of ALAS2 leads to maturation arrest of primitive erythroid cells. Heritable mutations of ALAS2 gene are responsible for the human X-linked sideroblastic anemia (XLSA).
ALAS2的缺失能导致红细胞发育的停滞，ALAS2基因的遗传性突变能引起X-连锁的成高铁红细胞贫血（XLSA）。
Objective To investigate the typical clinical manifestations, biochemical change and treatment of X-linked adrenoleukodystrophy.
目的：研究X-连锁肾上腺脑白质营养不良的临床、生化改变及治疗情况。
At present, more than 200 diseases which have been identified are X-linked, these diseases only affect male fetuses.
目前，已有超过200种单基因遗传性疾病被认为是由X染色体连锁遗传引起的，这些疾病只影响男性胎儿。
Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex.
甘油激酶缺乏症（GKD）是一种少见的X染色体隐性遗传性代谢缺陷病，可分为单纯型和复合型。
It is compatible with the X-linked recessive inheritance.
该病症符合X -连锁隐性遗传。
Objective To identity the ABCD1 gene mutation in a Chinese family with X-linked adrenoleukodystrophy (ALD).
目的鉴定并分析1个新的肾上腺脑白质营养不良家系的基因突变类型和位点。
Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy (ALD).
目的对3名来自不同家系的肾上腺脑白质营养不良(ALD)携带者所怀胎儿进行产前分子诊断。
This paper introduces the maintaining methods and discuses the reasons of linked breakdowns of the high voltage circuit of TOSHIBA KXO-15C X-ray generator.
本文介绍和讨论了东芝K XO-15C发生器高压电路连环故障的检修和发生原因。
Congenital microphthalmia is a developmental defect of ocular disorder with autosomal dominant, autosomal recessive, and X-linked recessive modes of inheritance.
先天性小眼球是一种先天发育异常性眼科疾病，遗传方式有常染色体显性遗传、常染色体隐性遗传和X连锁隐性遗传。
There are three kinds of inherited patterns including autosomal dominant, autosomal recessive and X-linked recessive in inherited congenital cataract.
与遗传有关的先天性白内障有多种遗传方式，其致病基因、 基因突变的位点和引起先天性白内障的表现型相继被发现。
FXS is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance etc.
其主要临床特征为智力低下、特殊的外貌特征（包括长脸、大耳廓、下颌突出、巨头、腭弓高、大睾丸等）、行为及认知障碍、多动、注意力难集中以及孤独、自闭等症状。
应用推荐