一个汉族家族性局灶节段性肾小球硬化病致病基因初步定位-preliminary mapping of pathogenic gene of a han family focal segmental glomerulosclerosis.docxVIP

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一个汉族家族性局灶节段性肾小球硬化病致病基因初步定位-preliminary mapping of pathogenic gene of a han family focal segmental glomerulosclerosis.docx

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一个汉族家族性局灶节段性肾小球硬化病致病基因初步定位-preliminary mapping of pathogenic gene of a han family focal segmental glomerulosclerosis

第二军医大学硕士学位论文 chromosomes. After exclusion of these loci, a genome-wide scan was performed. We made fine scan on the region identified by the genome-wide scan. Results: After giving the Chinese ethnic familial kidney disease family health examination and renal biopies to 2 members with proteinuria, we diagnosised FFSGS to this family. After exclusion of the loci repoted responsible for FFSGS（19q13、11q21－q22、6q12.3 and 1q25－q31）, a genome-wide scan was performed and significant evidence of linkage was obtained for marker D1S484 （Z=1.47(θ=0.00)）. Haplotype data indicated a negative interval, but this locate attacted with the positive locate of the former FFSGS. Conclusions: Clinical screening,laboratory and pathology examination confirmed this family was FFSGS; The FFSGS family was autosomal dominant and anticipation could be found in the family; We can prove that FFSGS has genetic heterogeneity according to our initial result, following exclusion of the loci which had been reported; The locate of D1S484 is attacted with the positive locate of the former FFSGS. Keywords: familial focal segmental glomerularsclerosis; autosomal dominant; focal segmental glomerularsclerosis; linkage analysis; haplotype analysis - 4 - 一个汉族家族性局灶节段性肾小球硬化病致病基因的初步定位缩略词表 FSGS Focal segmental glomerularsclerosis 局灶节段性肾小球硬化 FFSGS Familal focal segmental glomerularsclerosis 家族性局灶节段性肾小球硬化 ESRD End stage of renal disease 慢性肾脏病终末期 LOD Likelihood of odds 似然比 RFLP Restriction Fragment Length Polymorphism 限制性片段长度多态性 VNTR variable number tandem repeat, 大量可变数量串联重复 ASP affected sib-pair 受累同胞对分析法 APM affected pedigree member, 受累家系成员分析法 IBD identical by descent 亲属共占 Lods logarithm of odds score 优势对数分析法 ISH in situ hybridization 原位杂交 FISH Fluorescence in situ hybridization 荧光原位杂交 PBS Phosphate buffered saline 磷酸盐缓冲液 PCR polymerase chain reaction 聚合酶链式反应 STR short tandem repeat 简短串联重复 SNP Single Nucleotide Polymorphism 单核苷酸多态性标记 PIC Polymorphic information content 多态信息含量 - 5 - 独创性声明