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Localization of an ataxia-telangiectasia gene to chromosome 11q22-23   总被引:52,自引:0,他引:52  
Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood characterized by: (1) progressive cerebellar ataxia with degeneration of Purkinje cells; (2) hypersensitivity of fibroblasts and lymphocytes to ionizing radiation; (3) a 61-fold and 184-fold increased cancer incidence in white and black patients, respectively; (4) non-random chromosomal rearrangements in lymphocytes; (5) thymic hypoplasia with cellular and humoral (IgA and IgG2) immunodeficiencies; (6) elevated serum level of alphafetoprotein; (7) premature ageing; and (8) endocrine disorders, such as insulin-resistant diabetes mellitus. A DNA processing or repair protein is the suspected common denominator in this pathology. Heterozygotes are generally healthy; however, the sensitivity of their cultured cells to ionizing radiation is intermediate between normal individuals and that of affected homozygotes. Furthermore, heterozygous females are at an increased risk of breast cancer. These findings, when coupled with an estimated carrier frequency of 0.5-5.0%, suggest that (1) as many as one in five women with breast cancer may carry the AT gene and that (2) the increased radiation sensitivity of AT heterozygotes may be causing radiation therapists to reduce the doses of radiation used for treating cancer in all patients. To identify the genetic defect responsible for this multifaceted disorder, and to provide effective carrier detection, we performed a genetic linkage analysis of 31 families with AT-affected members. This has allowed us to localize a gene for AT to chromosomal region 11q22-23.  相似文献   
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本文调查了上海市百岁老人的性别、职业和谱系,并绘制了57个完整的寿命谱系图,其中男性10名(占总数的17.5%),女性47名(占82.5%).男性中脑力劳动者4名(占男性总数的40%),体力劳动者6名(占60%);女性中脑力劳动者1人(占女性总数的2.1%),体力劳动者3人(占6.4%),操持家务者43人(占91.5%).有长寿家族史者40人(占寿命家族史清楚者的70.2%),无长寿家族史者17人(占29.8%).百岁老人配偶寿长≥70岁者,其已故子女的平均寿命高于配偶<70岁的.作者认为长寿是遗传的,并着重从遗传和环境两方面分析了女寿星数明显多于男寿星数的原因.  相似文献   
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心肌宁冲剂按1.75g/kg,0.875g/kg剂量,每天早晚分两次灌胃给药,连续7天,均能明显对抗垂体后叶素所诱发的大鼠急性心肌缺血的心电图改变。  相似文献   
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该文通过34只罗猴头颈实验研究,从中决定罗猴的颅脑损伤容限.当颅脑受到冲击时,颅壳发生局部变形瞬间,大脑亦发生变形,致使颅内压升高.利用这些结果来确定它的损伤机制,以模拟宇航员在冲击载荷下的创伤分析模型,将有助于进行临床创伤治疗和宇航弹射时的防护.  相似文献   
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