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端粒、隐匿性镶嵌现象、杂合性缺失及复杂遗传性状

Telomeres, hidden mosaicism, loss of heterozygosity, and complex genetic traits.

作者信息

Aviv A, Aviv H

机构信息

Hypertension Research Center, University of Medicine and Dentistry of NJ, New Jersey Medical School, Newark 07103-2714, USA.

出版信息

Hum Genet. 1998 Jul;103(1):2-4. doi: 10.1007/s004390050774.

Abstract

Telomeres appear to function as an endogenous timing mechanism in human beings. Telomere attrition not only provides a satisfactory explanation for some aspects of aging, it might also resolve enigmatic features of complex genetic traits that are age-dependent. If, with the passage of time, telomere attrition in human beings leads to genomic instability and particularly the loss of chromosomes, then the age dependency of phenotypic expressions of complex genetic traits might result from the temporal loss of heterozygosity and the consequent expression of disease-causing genes. In this way, telomere attrition might play a role not only in aging, but also in the diverse expression of complex genetic traits, such as essential hypertension, non-insulin-dependent diabetes mellitus, atherosclerosis, and cancer.

摘要

端粒似乎在人类中起着内源性计时机制的作用。端粒损耗不仅为衰老的某些方面提供了令人满意的解释,它还可能解决复杂遗传性状中与年龄相关的神秘特征。如果随着时间的推移,人类的端粒损耗导致基因组不稳定,尤其是染色体丢失,那么复杂遗传性状表型表达的年龄依赖性可能是由于杂合性的随时间丧失以及随之而来的致病基因表达所致。通过这种方式,端粒损耗可能不仅在衰老中起作用,而且在复杂遗传性状的多样化表达中起作用,如原发性高血压、非胰岛素依赖型糖尿病、动脉粥样硬化和癌症。

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