目的:利用改良的basic and specific(BASP)分类分级法探讨雄激素性秃发(AGA)家族遗传史与其秃发类型、发病年龄、秃发严重程度及疗效的关系。方法:收集2013年1月—2014年12月来南京医科大学第一附属医院皮肤科毛发疾病门诊就诊的AGA患...目的:利用改良的basic and specific(BASP)分类分级法探讨雄激素性秃发(AGA)家族遗传史与其秃发类型、发病年龄、秃发严重程度及疗效的关系。方法:收集2013年1月—2014年12月来南京医科大学第一附属医院皮肤科毛发疾病门诊就诊的AGA患者。根据患者脱发情况进行改良的BASP分型,按照其脱发家族史进行分组,利用统计软件SPSS 22.0进行分析。结果:男性AGA患者家族史阳性率明显高于女性。AGA患者的基本秃发类型在父子间具有相关性。有AGA家族史的男性患者比无家族史患者在相同发病时间内脱发更严重,而女性患者脱发严重程度受家族史影响小。有AGA家族史患者平均发病年龄比无家族史患者早。AGA家族史对于治疗脱发疗效无影响。结论:有AGA家族史患者发病年龄早,脱发严重程度加重,且不同族系、不同亲缘级别的家族史对于患者脱发类型、严重程度的影响也不同,不同性别的患者受家族史的影响也有差别。展开更多
Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malform...Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.展开更多
文摘目的:利用改良的basic and specific(BASP)分类分级法探讨雄激素性秃发(AGA)家族遗传史与其秃发类型、发病年龄、秃发严重程度及疗效的关系。方法:收集2013年1月—2014年12月来南京医科大学第一附属医院皮肤科毛发疾病门诊就诊的AGA患者。根据患者脱发情况进行改良的BASP分型,按照其脱发家族史进行分组,利用统计软件SPSS 22.0进行分析。结果:男性AGA患者家族史阳性率明显高于女性。AGA患者的基本秃发类型在父子间具有相关性。有AGA家族史的男性患者比无家族史患者在相同发病时间内脱发更严重,而女性患者脱发严重程度受家族史影响小。有AGA家族史患者平均发病年龄比无家族史患者早。AGA家族史对于治疗脱发疗效无影响。结论:有AGA家族史患者发病年龄早,脱发严重程度加重,且不同族系、不同亲缘级别的家族史对于患者脱发类型、严重程度的影响也不同,不同性别的患者受家族史的影响也有差别。
基金supported by the Research Fund of the Istanbul University, Turkey (No. 480 [2359/2006])
文摘Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.
