惊!中国发现世上首例染色体异常核型

    发布时间:2016-03-07   来源:中华康网   
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染色体是人类遗传信息的重要载体,也是决定夫妻生男生女的关键所在。医学史上每一次对于染色体的研究突破都会让人对遗传变异有更深的理解。近日,江西井冈山大学附属医院遗传室副主任医师李铁华研究发现了一例世界上首次报告的人类染色体异常核型。

首例染色体异常核型

经中国医学遗传学国家重点实验室的中国工程院院士夏家辉等专家鉴定,该核型被《中国人类染色体异常核型数据库》收存。

2015年8月,一名男性患者因生育问题到井冈山大学附属医院就诊,这名患者早年生育过一个男孩,他的妻子其后多次怀孕却一直流产或死胎。李铁华等人前后4个多月对其染色体反复检测、筛查,确诊这名患者的3条染色体发生平衡异位、结构异常,并将其核型命名为“46,XY,t(4;6;5)(q21;q23;q35)”。

李铁华将这一发现报送中国医学遗传学国家重点实验室申请鉴定,经实验室专家鉴定查询,《CytogeneticsDatabase》《BorgaonkarOnline Database》《中国人类染色体异常核型数据库》均未见相关报道。目前这一染色体核型已被收录入《中国人类染色体异常核型数据库》,编号为4134。

李铁华介绍,这一异常核型的发现,为人类染色体异常目录数据库填补了一项空白,为研究此类遗传性疾病的发生、发展、预防和临床诊断、治疗提供了极有价值的第一手资料和重要依据;对充实人类异常核型数据库、致病基因定位及相关疾病基因水平的诊疗研究,都有重要意义和参考价值。

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