Latt S A, Kurnit D M, Bruns G P, Schreck R R, Morton C C, Kunkel L M, Lalande M, Aldridge J, Neve R, Tantravahi U
Am J Ment Defic. 1984 Mar;88(5):561-71.
Recombinant DNA techniques provide new approaches to the diagnosis and analysis of inherited human diseases associated with mental retardation. Examples of such diseases include the Lesch-Nyhan syndrome, phenylketonuria, the Fragile X syndrome, Down syndrome, and those associated with deletions or duplications of subchromosomal regions, e.g., the proximal short arm of human chromosome #15. For a limited but increasing number of diseases, the DNA sequences responsible for the phenotype (e.g., sequences coding for abnormal proteins) can be isolated directly. In many other cases, DNA segments mapping near genes responsible for diseases of interest can be isolated, e.g., from recombinant phage libraries enriched for specific regions of the genome by metaphase chromosome flow-sorting and then used in molecular linkage studies to "track" the abnormal gene in a pedigree. Both the necessary technology and the methods for its application continue to improve, and the impact of recombinant DNA studies in the field of mental retardation should increase markedly in the very near future.
重组DNA技术为诊断和分析与智力迟钝相关的人类遗传性疾病提供了新方法。这类疾病的例子包括莱施-奈恩综合征、苯丙酮尿症、脆性X综合征、唐氏综合征，以及那些与亚染色体区域的缺失或重复相关的疾病，例如人类第15号染色体近端短臂。对于数量有限但不断增加的一些疾病，可以直接分离出导致表型的DNA序列（例如编码异常蛋白质的序列）。在许多其他情况下，可以分离出位于感兴趣疾病相关基因附近的DNA片段，例如从通过中期染色体流式分选富集基因组特定区域的重组噬菌体文库中分离，然后用于分子连锁研究，以在谱系中“追踪”异常基因。必要的技术及其应用方法都在不断改进，重组DNA研究在智力迟钝领域的影响在不久的将来应该会显著增加。
