Aslam S, Bowen D J, Mandalaki T, Gialeraki R, Standen G R
Molecular Haematology Unit, Bristol Royal Infirmary, UK.
Am J Hematol. 1996 Oct;53(2):77-80. doi: 10.1002/(SICI)1096-8652(199610)53:2<77::AID-AJH4>3.0.CO;2-0.
We investigated the molecular basis of factor XIII(A) subunit deficiency in a Greek family. Each of the 15 exons of the A subunit gene were individually amplified by polymerase chain reaction, using previously reported oligoprimers. The proband with severe deficiency was found to have a homozygous 13-base pair deletion in the 3' half of exon 3. The deleted sequence, extending from codons 82-86, results in a frameshift and generates a downstream termination codon in exon 4. Single strand conformation polymorphism (SSCP) analysis detected no additional mutations in the coding or consensus splice sequences of the A subunit gene. Both parents of the proband were heterozygous for the defect. Only one previous microdeletion (AG dinucleotide) has been reported in the A subunit gene, and was located at the intron B-exon 3 boundary. Further studies are necessary to determine whether this region of the gene is a "hot spot" for microdeletion mutations.
我们研究了一个希腊家族中因子 XIII(A) 亚基缺乏症的分子基础。使用先前报道的寡核苷酸引物，通过聚合酶链反应分别扩增 A 亚基基因的 15 个外显子。发现患有严重缺乏症的先证者在第 3 外显子的 3' 半部分有一个纯合的 13 个碱基对的缺失。缺失序列从第 82 - 86 密码子延伸，导致移码并在第 4 外显子中产生下游终止密码子。单链构象多态性（SSCP）分析未检测到 A 亚基基因编码或共有剪接序列中的其他突变。先证者的父母均为该缺陷的杂合子。先前在 A 亚基基因中仅报道过一次微缺失（AG 二核苷酸），位于内含子 B - 外显子 3 边界。需要进一步研究以确定该基因区域是否为微缺失突变的“热点”。
