Kazazian H H
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD 21205.
Birth Defects Orig Artic Ser. 1987;23(3):77-92.
In this chapter I have tried to relate the salient features of globin gene structure, genomic organization, normal variation, and mutations affecting gene expression. The lessons learned from the normal beta-globin gene cluster and mutations producing beta-thalassemia should be highly applicable to studies of other inherited diseases. As more and more gene probes become available, which have relevance to the study of human disease, the striking extent of genetic heterogeneity producing single gene disorders of man will be illuminated.
在本章中，我试图阐述珠蛋白基因结构、基因组组织、正常变异以及影响基因表达的突变等显著特征。从正常的β-珠蛋白基因簇以及导致β-地中海贫血的突变中汲取的经验教训，应能高度适用于其他遗传性疾病的研究。随着越来越多与人类疾病研究相关的基因探针问世，导致人类单基因疾病的遗传异质性的显著程度将得以阐明。
