宗古尔达克无白蛋白血症：病例报告与突变分析
Analbuminemia Zonguldak: case report and mutational analysis.
作者信息
Caridi Gianluca, Dagnino Monica, Dalgic Buket, Egritas Odul, Sancak Banu, Campagnoli Monica, Dolcini Lorenzo, Galliano Monica, Minchiotti Lorenzo
机构信息
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Largo G Gaslini, 5, Genova, Italy.
出版信息
Clin Biochem. 2008 Mar;41(4-5):288-91. doi: 10.1016/j.clinbiochem.2007.11.016. Epub 2007 Dec 5.
OBJECTIVES
To document a new case of the rare disease analbuminemia and to study the molecular defect responsible for the trait.
DESIGN AND METHODS
Single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing of the 14 exons and their flanking intron regions, as well as of the 5' and 3' UTR, of the albumin gene were conducted on DNA extracted from peripheral blood samples.
RESULTS
DNA sequence analysis showed that the proband was homozygous, and his parents were both heterozygous, for a previously unreported 5180 T-->A transversion. This silent mutation creates at position 5180-81 a new AG dinucleotide, the invariant sequence encountered in all eukaryotic intron acceptor splice sites. This aberrant splice site near the 3'end of exon 5 might alter the normal splicing mechanism. No other mutation was found in the examined regions of the gene.
CONCLUSIONS
Our results define a new molecular defect in the albumin gene.
目的
记录一例罕见疾病无白蛋白血症的新病例，并研究导致该性状的分子缺陷。
设计与方法
对从外周血样本中提取的DNA进行白蛋白基因14个外显子及其侧翼内含子区域以及5'和3'非翻译区的单链构象多态性（SSCP）、异源双链分析（HA）和DNA测序。
结果
DNA序列分析显示，先证者为纯合子，其父母均为杂合子，存在一个先前未报道的5180 T→A颠换。这种沉默突变在5180-81位产生了一个新的AG二核苷酸，这是在所有真核生物内含子受体剪接位点中都存在的不变序列。外显子5 3'端附近的这种异常剪接位点可能会改变正常的剪接机制。在该基因的检测区域未发现其他突变。
结论
我们的结果确定了白蛋白基因中的一种新的分子缺陷。
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