[Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family].
The study is to determine the genomic structure and the role of SMARCA1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member1, SMARCA1) in the etiology of Smith-Fineman-Myers syndrome (SFMS). By comparing the cDNA sequence of SMARCA1 with the genomic sequences, genomic structure of SMARCA1 was determined, and conformed by amplifying and sequencing the sequences of exons and splicing junction. The results show that the genomic sequence of SMARCA1 gene exceeds 71.7 kb in length, and contains 24 exons and 23 introns. All the exon/intron boundaries follow the GT-AG rule and are in good agreement with the exon/intron consensus sequence. The characterization of genomic structure of SMARCA1 gene allows us to detect disease-causing mutation within the gene and further study its biological function. The open reading frame of SMARCA1 was detected for mutation by PCR amplification and direct sequencing in affected males from SFMS family in Shandong China. The disease in SFMS family from Shandong is not caused by the mutation within open reading frame of SMARCA1 gene.
Liu
Qi-Ji
QJ
Institute of Medical Genetics, School of Medicine, Shandong University, Jinan 250012, China. liuqiji@sdu.edu.cn
Gong
Yao-Qin
YQ
Zhang
Xi-Yu
XY
Gao
Gui-Min
GM
Guo
Yi-Shou
YS
D000015:Abnormalities, Multiple / Q000235:genetics*; D041321:Chromosomes, Human, X; D018076:DNA, Complementary / Q000737:chemistry; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*
D018076:DNA, Complementary; D004268:DNA-Binding Proteins; C499336:SMARCA1 protein, human; D014157:Transcription Factors