Dahl H H, Brown G K, Brown R M, Hansen L L, Kerr D S, Wexler I D, Patel M S, De Meirleir L, Lissens W, Chun K
Murdoch Institute for Research Into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Australia.
Hum Mutat. 1992;1(2):97-102. doi: 10.1002/humu.1380010203.
We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase E1 alpha gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex.
我们展示了位于人类X染色体上的丙酮酸脱氢酶E1α基因的突变和多态性的最新情况。总共列出了20种不同的突变。这些突变包括缺失、插入和点突变。某些序列似乎特别容易发生突变。大多数突变见于外显子10和11。此外，在不相关的患者中发现了其中四种突变。关于这些突变如何影响丙酮酸脱氢酶复合体的结构或功能，人们知之甚少。
