Brown R M, Dahl H H
Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Melbourne, Australia.
Genomics. 1987 Sep;1(1):67-70. doi: 10.1016/0888-7543(87)90106-6.
We report the localization of the gene for dihydropteridine reductase (DHPR) to the human chromosome region 4p15.3 by in situ hybridization using a cDNA probe to the enzyme. The distal end of the short arm of chromosome 4 is of considerable interest because the gene responsible for Huntington's disease is located in this region. Although this part of the chromosome is being extensively studied, DHPR is the first well-characterised gene to be assigned to the region. Restriction enzyme fragment length polymorphisms have been detected with a number of restriction endonucleases, including AvaII and MspI. These features may make the DHPR cDNA clone a useful probe not only for prenatal diagnosis of DHPR deficiency but also for linkage studies of Huntington's disease.
我们通过使用该酶的cDNA探针进行原位杂交，将二氢蝶啶还原酶（DHPR）基因定位到人类染色体区域4p15.3。4号染色体短臂的远端备受关注，因为导致亨廷顿病的基因位于该区域。尽管该染色体的这一部分正在被广泛研究，但DHPR是第一个被定位到该区域的特征明确的基因。已经用包括AvaII和MspI在内的多种限制性内切酶检测到限制性酶切片段长度多态性。这些特性可能使DHPR cDNA克隆不仅成为用于产前诊断DHPR缺乏症的有用探针，而且成为用于亨廷顿病连锁研究的有用探针。
