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Tardive Foreword X-linked spinal epiphyseal dysplasia (X-linked spondyloepiphyseal dysplasia tarda, SEDL, OMIM 313400) is a rare genetic bone and cartilage dysplasia disease. Foreign reports population prevalence 1.7/100 thousand. The disease mainly involving the spinal vertebrae and the Order of the major joints, clinical manifestations of short trunk dwarfism , can have severe scoliosis , kyphosis , and limited mobility, a large early-onset arthritis, especially in the hip ; X -ray examination shows vertebral generally become flat , the upper and lower edge of the front portion of the vertebral body sag in the rear characteristic \There is no effective treatment for the disease , try to avoid possible damage to the spine and large joints of activities can delay disease progression. Poor prognosis of the disease , mostly in middle age can not walk , the need arthroplasty . 1939 Jacobsen first reported a SEDL pedigrees , one after another after more than 40 different ethnic SEDL pedigrees reported . 1988 Szpiro-Tapia and so on through linkage analysis , the disease-causing gene SEDL initially positioned distal short arm of the X ; 1999 SEDL Gedeon , etc. will be further identified as the causative gene in Xp22.2-Xp22.1 the SEDL gene . SEDL gene is 20kb, contains six exons, in almost all adult and fetal tissues were expressed, encoded with 140 amino acid residues of the protein , is highly conserved in evolution . At present domestic and foreign scholars from different races, the 46 unrelated pedigrees SEDL gene mutation analysis , were found in 30 different mutations , including small fragments caused by nucleotide deletion or insertion frameshift mutation , missense mutation , nonsense mutations , splice site mutations and large deletions and so on. Among them, the deletion mutation is the most common , accounting for 56.5% ; 51.2% of mutations in exon 5 and exon 4 , did not find significant mutation hot spots . The topic for the clinical diagnosis of five cases of disseminated for SEDL SEDL gene mutation analysis to explore the molecular basis of the Chinese people SEDL while expanding SEDL gene mutation spectrum for disease diagnosis and gene therapy genetic basis . Subjects and Methods Subjects : five cases of disseminated SEDL patients and their parents in one case and 20 unrelated healthy
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