目的分析伴前庭水管扩大(eva)的遗传性耳聋患者SLC26 A 4基因的突变特点，探讨该病行人工耳蜗植入时应注意的问题。
Objective to probe the problems that should be paid attention to in cochlea implantation for inherited deafness patients with EVA and to detect the SLC26A4 gene mutation underlying the disease.
目的调查DXYS267基因座遗传多态性，研究该座位伴性遗传单核苷酸的特征及其法医学应用价值。
Objective To investigate the polymorphism of DXYS267 locus in China Han population and find the application and characters of its Y-specific single nucleotide substitutions.
目的从分子遗传水平进行基因多态性研究，以探讨2型糖尿病易伴发冠心病的内在原因。
Objective To explore the association of type 2 diabetes with coronary heart disease (CHD), from gene polymorphism analysis.
目的：探讨5 -羟色胺转运体基因多态性对冠心病伴抑郁的影响。
Objective: to investigate whether polymorphisms of serotonin transporter (5-htt) exerts any influence on depressive disorder in coronary heart disease (CHD).
结论ICAM- 1 K469E多态性与2型糖尿病伴发肾病的发生有关，K等位基因可能是DN的易感基因。
Conclusions K469E polymorphism of ICAM-1 is associated with type 2 DN, and K allele may be susceptible to DN.
在回顾性复习这些病例的基础上，作者发现伴 ZC3H7B-BCOR 基因融合的ESS构成了高级别 ESS一种新的亚型，并且该亚型与黏液样型平滑肌肉瘤在形态学上有显著的重叠。
On the basis of the review of these cases, we find that ESS with ZC3H7B-BCOR fusion constitutes a novel type of high-grade ESS and shares significant morphologic overlap with myxoid leiomyosarcoma.
结论LDLR基因多态性可能与EH伴肥胖相关。
Conclusions LDLR gene polymorphism might be associated with EH accompanied obesity.
目的：探讨单胺氧化酶a和单胺氧化酶b基因与伴精神病性症状双相情感性障碍间的遗传关联性。
Objective: to investigate the genetic association between MAOA and MAOB genes and the bipolar affective disorder with psychiatric symptoms.
目的：探讨单胺氧化酶a和单胺氧化酶b基因与伴精神病性症状双相情感性障碍间的遗传关联性。
Objective: to investigate the genetic association between MAOA and MAOB genes and the bipolar affective disorder with psychiatric symptoms.
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