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Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia,China 被引量:2
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作者 Hong-dan WANG Chun-mei SHEN +5 位作者 Wen-juan LIU Yu-dang ZHANG Guang YANG Jiang-wei YAN Hai-xia QIN Bo-feng ZHU 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2013年第6期533-540,共8页
We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat(STR)loci and the amelogenin locus,which are not included in the combined DNA index system(CODIS),in a Ru... We studied the allelic frequency distributions and statistical forensic parameters of 21 new short tandem repeat(STR)loci and the amelogenin locus,which are not included in the combined DNA index system(CODIS),in a Russian ethnic minority group from the Inner Mongolia Autonomous Region,China.A total of 114 bloodstain samples from unrelated individuals were extracted and co-amplified with four fluorescence-labeled primers in a multiplex polymerase chain reaction(PCR)system.Using capillary electrophoresis,the PCR products of the 21 STR loci were separated and genotyped.A total of 161 alleles were observed in the Russian ethnic minority group,and corresponding allelic frequencies ranged from 0.0044 to 0.5965.The 21 non-CODIS STR loci of the Russian ethnic minority group were characterized by high genetic diversity and therefore may be useful for elucidating the population's genetic background,for individual identification,and for paternity testing in forensic practice. 展开更多
关键词 Short tandem repeat(STR) Russian population Genetic polymorphisms
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The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis 被引量:1
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作者 Yilai Shu Lijun Wang +8 位作者 Xiaoting Cheng Chayada Tangshewinsirikul Weili Shi Yasheng Yuan Zhiqiang Yan Huawei Li Jun Shen Bing Chen Weiguo Zou 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2019年第9期445-449,共5页
Conductive hearing loss is the impairment in the mechanical transduction of sound wave through the external ear and the middle ear.Although most cases are sporadic due to acquired causes such as infections(otitis medi... Conductive hearing loss is the impairment in the mechanical transduction of sound wave through the external ear and the middle ear.Although most cases are sporadic due to acquired causes such as infections(otitis media and otitis externa),cerumen obstruction,and injuries,congenital structural defects are uncommon for significant etiologies to recognize.Stapes ankylosis is characterized by conductive hearing loss.It may be difficult to differentiate from otosclerosis,the most common cause of progressive conductive hearing loss,by audiologic evaluation,when the diagnosis is delayed.Skeletal anomalies may be subtle,such that the syndrome may not be recognized(Brown et al.,2002). 展开更多
关键词 CONGENITAL injuries diagnosis
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