Lin X, Wells D E, Kimberling W J, Kumar S
Department of Biology and Institute of Molecular Biology, University of Houston, Houston, Tex., USA.
Hum Hered. 1999 Mar;49(2):75-80. doi: 10.1159/000022848.
Human NADH dehydrogenase (ubiquinone) 1beta-subcomplex, 9 (NDUFB9) is a nuclear encoded mitochondrial protein with the respiratory electron transport chain. It has been physically mapped to a 1-Mb deletion at chromosome 8q13 which also contains the gene for branchio-oto-renal (BOR) syndrome. BOR syndrome is characterized by branchial and renal abnormalities with hearing impairment. Since several hereditary deafness disorders have been associated with mitochondrial mutations, NDUFB9 was considered a candidate gene for BOR syndrome. Recently, EYA1 gene has been identified in the region which underlies the BOR syndrome but majority of BOR families did not show mutations in the EYA1 gene. Here we have determined the genomic structure of the NDUFB9 gene, including the nucleotide sequence, organization and the boundaries of the four coding exons. PCR primers were designed from the adjacent intron sequences that allow amplification of the four exons that encode the complete open reading frame. To identify whether mutations in NDUFB9 are involved in causing the BOR syndrome, we screened 9 BOR families which did not show mutations in the EYA1 gene by heteroduplex analysis; however, no mutations were found.
人类NADH脱氢酶（泛醌）1β亚复合体9（NDUFB9）是一种由细胞核编码的、与呼吸电子传递链相关的线粒体蛋白。它在染色体8q13上的一个1兆碱基缺失区域被定位，该区域还包含鳃-耳-肾（BOR）综合征的相关基因。BOR综合征的特征是伴有听力障碍的鳃部和肾脏异常。由于几种遗传性耳聋疾病与线粒体突变有关，NDUFB9被认为是BOR综合征的一个候选基因。最近，EYA1基因已在导致BOR综合征的区域被鉴定出来，但大多数BOR家系在EYA1基因中未显示出突变。在此，我们确定了NDUFB9基因的基因组结构，包括核苷酸序列、结构组成以及四个编码外显子的边界。从相邻的内含子序列设计了PCR引物，用于扩增编码完整开放阅读框的四个外显子。为了确定NDUFB9中的突变是否参与导致BOR综合征，我们通过异源双链分析筛选了9个在EYA1基因中未显示突变的BOR家系；然而，未发现任何突变。
