Børglum A D, Flint T, Hansen L L, Kruse T A
Institute of Human Genetics, Aarhus University, Denmark.
Hum Genet. 1997 Jan;99(1):80-2. doi: 10.1007/s004390050315.
Pyruvate dehydrogenase (PDH) E1 alpha is a key component in the PDH complex which catalyzes the oxidative decarboxylation of pyruvate to acetyl-CoA. Defects in the gene coding for PDH E1 alpha (PDHA1) are associated with a variety of clinical symptoms, often of a severe character. In the present study, the segregation of three polymorphic CA repeats located in PDHA1 was followed in the 40 CEPH reference pedigrees. Using these data, multipoint linkage analysis was carried out, refining the genetic location of PDHA1. The 16-point map presented locates PDHA1 in an approximately 3-cM interval between DXS999 and DXS365 with odds of more than 1000:1. From known physical localizations of the flanking marker loci, PDHA1 could be regionally assigned to Xp22.1-p22.2. The information provided should be of value in clinical settings.
丙酮酸脱氢酶（PDH）E1α是PDH复合体中的关键组分，该复合体催化丙酮酸氧化脱羧生成乙酰辅酶A。编码PDH E1α（PDHA1）的基因缺陷与多种临床症状相关，这些症状通常较为严重。在本研究中，对40个CEPH参考家系中位于PDHA1的三个多态性CA重复序列的分离情况进行了追踪。利用这些数据进行了多点连锁分析，从而精确确定了PDHA1的基因定位。所呈现的16点图谱将PDHA1定位在DXS999和DXS365之间大约3厘摩的区间内，优势比超过1000:1。根据侧翼标记位点已知的物理定位，PDHA1可被区域定位到Xp22.1-p22.2。所提供的信息在临床环境中应具有价值。
