排序方式: 共有5条查询结果,搜索用时 15 毫秒
1
1.
Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. 总被引:23,自引:0,他引:23
C Wijmenga J E Hewitt L A Sandkuijl L N Clark T J Wright H G Dauwerse A M Gruter M H Hofker P Moerer R Williamson 《Nature genetics》1992,2(1):26-30
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder which maps to chromosome 4qter, distal to the D4S139 locus. The cosmid clone 13E, isolated in a search for homeobox genes, was subsequently mapped to 4q35, also distal to D4S139. A subclone, p13E-11, detects in normal individuals a polymorphic EcoRI fragment usually larger than 28 kilobases (kb). Surprisingly, using the same probe we detected de novo DNA rearrangements, characterized by shorter EcoRI fragments (14-28 kb), in 5 out of 6 new FSHD cases. In 10 Dutch families analysed, a specific shorter fragment between 14-28 kb cosegregates with FSHD. Both observations indicate that FSHD is caused by independent de novo DNA rearrangements in the EcoRI fragment detected by p13E-11. 相似文献
2.
邓昭镜 《西南师范大学学报(自然科学版)》1988,(4)
一维聚合链可以用一维振子链来模拟.其中联接振子而组装链的键可以分为主键和次键.一维振子链的非线性过程要受主键或次键的非线性过程所控制,本文讨论了在主键或次键的非线性作用下所引起的一维振子链的非线性过程.在一定条件下,我们可以得到解析的孤子解. 相似文献
3.
Dauwerse JG Dixon J Seland S Ruivenkamp CA van Haeringen A Hoefsloot LH Peters DJ Boers AC Daumer-Haas C Maiwald R Zweier C Kerr B Cobo AM Toral JF Hoogeboom AJ Lohmann DR Hehr U Dixon MJ Breuning MH Wieczorek D 《Nature genetics》2011,43(1):20-22
We identified a deletion of a gene encoding a subunit of RNA polymerases I and III, POLR1D, in an individual with Treacher Collins syndrome (TCS). Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. Furthermore, we discovered mutations in both alleles of POLR1C in three individuals with TCS. These findings identify two additional genes involved in TCS, confirm the genetic heterogeneity of TCS and support the hypothesis that TCS is a ribosomopathy. 相似文献
4.
Mutations in ABCC6 cause pseudoxanthoma elasticum 总被引:21,自引:0,他引:21
Bergen AA Plomp AS Schuurman EJ Terry S Breuning M Dauwerse H Swart J Kool M van Soest S Baas F ten Brink JB de Jong PT 《Nature genetics》2000,25(2):228-231
Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families. 相似文献
5.
Ptprj is a candidate for the mouse colon-cancer susceptibility locus Scc1 and is frequently deleted in human cancers 总被引:21,自引:0,他引:21
1