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遗传性耳聋一家系分析

A families analysis with the genetic deafness
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摘要 通过对非综合性耳聋患者家系的耳聋基因热点突变的筛查,是防控遗传性耳聋的首要步骤。在此基础上再结合用药指导、产前诊断、临床干预可有效减少耳聋的发生。 By screening mutant deafness gene hotspot of non syndromic heating impairment patients families, is the first step in the prevention and control of genetic deafness. On this basis, combined with medication guide, prenatal diagnosis, clinical intervention can effectively reduce the incidence of deafness.
出处 《中国优生与遗传杂志》 2014年第9期172-172,共1页 Chinese Journal of Birth Health & Heredity
关键词 遗传性耳聋 非综合性耳聋 基因诊断 Genetic deafness Non syndromic hearing Impairment of gene diagnosis
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  • 1赵亚丽,李庆忠,翟所强,兰兰,袁虎,王秋菊.国人前庭水管扩大患者SLC26A4基因的特异性突变[J].听力学及言语疾病杂志,2006,14(2):93-96. 被引量:43
  • 2戴朴,刘新,于飞,朱庆文,袁永一,杨淑芝,孙勍,袁慧军,杨伟炎,黄德亮,韩东一.18个省市聋校学生非综合征性聋病分子流行病学研究(Ⅰ)-GJB2 235delC和线粒体DNA 12SrRNA A1555G突变筛查报告[J].中华耳科学杂志,2006,4(1):1-5. 被引量:167
  • 3戴朴,韩东一,冯勃,康东洋,刘新,袁慧军,曹菊阳,张昕,翟所强,杨伟炎,吴柏林.大前庭水管综合征的基因诊断和SLC26A4基因突变分析[J].中国耳鼻咽喉头颈外科,2006,13(5):303-307. 被引量:77
  • 4Toriello HV,Reardon W,Gorlin RJ.遗传性听力损失及其综合征.2版[M].王秋菊,韩东一,翟所强,饶绍奇,译.北京:人民军医出版社,2006:10.
  • 5Smith RJ. Clinical application of genetic testing for deafness. Am J Med Genet A, 2004, 130A(1 ): 8-12.
  • 6Azaiez H, Yang T, Prasad S, et al. Genotype-phenotype correlation for SLC26A4-related deafness. Hum Genet, 2007, 122 (5):451- 457.
  • 7Campbell C, Cucci RA, Prasad S, et al. Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat, 2001, 17(5): 403-411.
  • 8Blons H, Feldmann D, Duval V, et al. Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity. Clin Genet, 2004, 66(4): 333-340.
  • 9Tsukamoto K, Suzuki H, Harada D, et al. Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese. Eur J Hum Genet, 2003, 11 ( 12): 916-922.
  • 10Wang Q J, Zhao YL, Rao SQ, et al. A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China. Clin Genet, 2007, 72(3): 245-254.

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