1) nonsyndromic hearing loss
非综合征型耳聋
1.
Mutation analysis of12S rRNA andtRNA-Ser ~((UCN)) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage;
近亲结婚所致非综合征型耳聋家系的线粒体基因突变分析
2.
In order to investigate the possible role of mitochondrial DNA mutations in NSHL, we analyze the incidence, character of three types of mitochondrial DNA mutations in the nonsyndromic hearing loss (NSHL) patients and their clinical data, healthy control subjects were also analyzed simultaneously.
分析非综合征型耳聋患者(nonsyndromic hearing loss, NSHL)及健康体检者中3种线粒体DNA(mitochondrial DNA, mtDNA)突变的发生频率、性质及临床资料特点,探讨线粒体DNA突变与非综合征型耳聋的关系。
2) nonsyndromic deafness
非综合征型耳聋
1.
Objective To ascertain whether other variations coexist with 1555(A→G) mutation in the mitochondrial DNA and may aggravate the severity of hearing loss or increase the penetrance of 1555(A→G) mutation in a large family with maternally inherited nonsyndromic deafness in Huaiyin, Jiangsu province.
目的在江苏淮阴一母系遗传非综合征型耳聋大家系中,寻找线粒体基因组上可能影响1555(A→G)突变表型的其他位点突变。
2.
Following establishment of immortal lymphoblastoid cell lines for the Chinese extensive family with nonsyndromic deafness in Huaiyin, Jiangsu Province, the whole mitochondrial genome and two putative nuclear modifier genes were PCR amplified and directly sequenced, and the chromosomal region around marker D8S277, a promising modifier locus on 8p23.
一、在家系随访和临床医学检查的前提下,知情同意后,共收集到来自淮阴耳聋大家系的122例全血标本(包括85例母系成员、26例相关配偶对照和11例父系成员),并采用EB病毒转化法成功构建了115株永生化细胞系,有效地保存了该大家系的遗传资源; 二、共发现遗传性耳聋患者56例,且均为母系成员,表现出母系遗传的特征;耳聋患者个体间的听力损失程度和发病年龄差异较大,但均为双耳对称性、感音神经性高频听力损失,且多不伴有耳聋以外的其他病症,确认为非综合征型耳聋;根据构建的家系图谱分析,除线粒体DNA突变外,可能还有位于常染色体上的核基因以不规则显性遗传方式影响母系成员的临床表型; 三、采用聚合酶链反应-限制片断长度多态性分析(PCR-restriction fragment length polymorphism, PCR-RFLP)和测序技术,检测了核心分支家系中26。
3) non-syndromic hearing impairment
非综合征型耳聋
1.
Since the first deafness gene was cloned in 1995, 128 loci and more than 40 karyogenes for NSHI (non-syndromic hearing impairment) have been identified.
自1995年发现第一个NSHI(non-syndromic hearing impairment,非综合征型耳聋)基因到现在,已经定位的NSHI基因位点128个,40多个NSHI核基因被克隆,其中包括编码肌球蛋白的细胞骨架蛋白、细胞外基质蛋白、通道和缝隙连接蛋白、转录因子基因以及一些未知功能的基因等。
2.
Hearing impairment is the most inherited common and highly heterogeneous sensory disorder in humans,which affects 1 in every 1000 children,Genetic causes account up to 50%hearing impairment,of which over 70%are non-syndromic hearing impairment,about 80%non-syndromic hearing impairment is inherited in an autosomal recessive pattern.
国内非综合征型耳聋患者中,由DFNB1和SLC26A4基因发生突变而致聋的患者占了50%以上。
4) nonsyndromic inherited hearing loss
非综合征型遗传性耳聋
6) Nonsyndromic hearing impairment
非综合征性耳聋
1.
Mutation analysis of GJB2 gene in nonsyndromic hearing impairment patients from Northeastern China;
中国东北地区非综合征性耳聋患者GJB2基因的致聋突变分析
2.
Gene mapping of a nonsyndromic hearing impairment family;
非综合征性耳聋一家系的基因定位
补充资料：三倍体综合征和三倍体与二倍体混合体综合征
三倍体综合征和三倍体与二倍体混合体综合征
三倍体指增加一组额外的染色体，约占妊娠的2%。额外的染色体多来自父亲，66%由于两次受精，24%由于所受的精子是二倍体，10%由于受精的卵是二倍体。胎儿大都流产，约为染色体异常自然流产的20%。孕妇可以伴发不同程度的妊高征，胎儿由于胎盘囊性变或细胞遗传学异常而死亡，只有3%的69，XXY存活。偶有三倍体婴儿在妊娠28周后出生，二倍体与三倍体混合体综合征更少见，均有严重的发育缺陷。表现：胎盘大有囊性变。骨骼方面混合体综合征者骨骼生长不对称。颅骨发育不良，后囟门大，眼距过宽，虹膜缺损，甚至小眼。鼻梁低，耳畸形，口颌小。第3、4指并指，通贯掌纹，马蹄内翻畸形足。先天性心脏病(心房和心室间隔缺损)。男性尿道下裂，阴茎小，隐睾，睾丸间质细胞增生。脑异常。肾上腺发育不全，肾畸形。此类综合征胎体大多流产，出生后也会早期死亡。存活的二倍体与三倍体混合体一般都有精神运动障碍。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条