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X连锁遗传性肾炎综合征基因的定位

Localization of the gene for X-linked Alport's syndrome.

作者信息

Brunner H, Schröder C, van Bennekom C, Lambermon E, Tuerlings J, Menzel D, Olbing H, Monnens L, Wieringa B, Ropers H H

机构信息

Department of Human Genetics, University Hospital, Nijmegen, the Netherlands.

出版信息

Kidney Int. 1988 Oct;34(4):507-10. doi: 10.1038/ki.1988.210.

DOI:10.1038/ki.1988.210
PMID:3199669
Abstract

X-chromosomal DNA probes defining various polymorphic DNA markers were used to study genetic linkage in three families with Alport's syndrome. With the DXS17 marker, only a single cross-over was observed in 26 informative meioses, and evidence for linkage was also obtained with the DXS11 marker. These data localize the gene for the X-linked form of Alport's syndrome to the middle of the long arm of the X chromosome.

摘要

定义各种多态性DNA标记的X染色体DNA探针被用于研究三个患有阿尔波特综合征的家族中的遗传连锁情况。对于DXS17标记,在26次可提供信息的减数分裂中仅观察到一次交叉,并且使用DXS11标记也获得了连锁证据。这些数据将X连锁型阿尔波特综合征的基因定位到X染色体长臂的中部。

相似文献

1
Localization of the gene for X-linked Alport's syndrome.X连锁遗传性肾炎综合征基因的定位
Kidney Int. 1988 Oct;34(4):507-10. doi: 10.1038/ki.1988.210.
2
Genetics of classic Alport's syndrome.经典型阿尔波特综合征的遗传学
Lancet. 1988 Oct 29;2(8618):1005-7. doi: 10.1016/s0140-6736(88)90753-2.
3
Linkage studies in X-linked Alport's syndrome.X连锁遗传性肾炎的连锁研究。
Hum Genet. 1988 Dec;81(1):85-7. doi: 10.1007/BF00283736.
4
Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.Alport综合征及相关综合征的肾脏预后:遗传方式的影响。
Nephrol Dial Transplant. 1989;4(12):1016-21.
5
Apparently changing patterns of inheritance in Alport's hereditary nephritis: genetic heterogeneity versus altered diagnostic criteria.遗传性肾炎(Alport综合征)中明显变化的遗传模式:遗传异质性与诊断标准的改变
Clin Genet. 1980 Apr;17(4):285-92. doi: 10.1111/j.1399-0004.1980.tb00149.x.
6
Alport's syndrome: genetic evaluation of personal data concerning twelve families.
Contrib Nephrol. 1990;80:126-30. doi: 10.1159/000418638.
7
Multipoint linkage analysis in X-linked Alport syndrome.
Hum Genet. 1991 Dec;88(2):157-61. doi: 10.1007/BF00206064.
8
Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.通过逆转录聚合酶链反应(RT-PCR)和直接测序法,在超过90%的X连锁遗传性肾炎男性患者中检测到COL4A5基因突变。
Am J Kidney Dis. 1999 Nov;34(5):854-62. doi: 10.1016/S0272-6386(99)70042-9.
9
Alport's syndrome: localization of the X-chromosomal gene and consequences for future investigations.
Contrib Nephrol. 1988;67:200-5. doi: 10.1159/000415402.
10
Alport's syndrome.阿尔波特综合征
J Med Genet. 1988 Sep;25(9):623-7. doi: 10.1136/jmg.25.9.623.

引用本文的文献

1
Alport's syndrome.阿尔波特综合征
J Med Genet. 1997 Apr;34(4):326-30. doi: 10.1136/jmg.34.4.326.
2
Mild phenotypic manifestation of a 7p15.3p21.2 deletion.7p15.3p21.2缺失的轻度表型表现。
J Med Genet. 1993 Jul;30(7):610-2. doi: 10.1136/jmg.30.7.610.
3
Canine X chromosome-linked hereditary nephritis: a genetic model for human X-linked hereditary nephritis resulting from a single base mutation in the gene encoding the alpha 5 chain of collagen type IV.犬X染色体连锁遗传性肾炎:一种因编码IV型胶原α5链的基因发生单碱基突变导致的人类X连锁遗传性肾炎的遗传模型。
Proc Natl Acad Sci U S A. 1994 Apr 26;91(9):3989-93. doi: 10.1073/pnas.91.9.3989.
4
Should women who are known or potential carriers of the Alport gene be accepted as kidney donors?
Pediatr Nephrol. 1990 May;4(3):248. doi: 10.1007/BF00857666.
5
Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus.α5(IV)胶原蛋白的分子克隆及该基因在含有奥尔波特综合征基因座的X染色体区域的定位。
Am J Hum Genet. 1990 Jun;46(6):1024-33.
6
Alport syndrome, basement membranes and collagen.阿尔波特综合征、基底膜与胶原蛋白。
Pediatr Nephrol. 1990 Sep;4(5):523-32. doi: 10.1007/BF00869840.
7
Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen.编码人IV型胶原α3链的部分cDNA的序列及定位
Am J Hum Genet. 1991 Sep;49(3):545-54.
8
The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.与假定的古德帕斯彻抗原相对应的基因存在于奥尔波特综合征中。
Clin Exp Immunol. 1991 Aug;85(2):236-9. doi: 10.1111/j.1365-2249.1991.tb05711.x.
9
Identification of a distinct type IV collagen alpha chain with restricted kidney distribution and assignment of its gene to the locus of X chromosome-linked Alport syndrome.一种具有局限于肾脏分布的独特IV型胶原α链的鉴定及其基因定位于X染色体连锁的奥尔波特综合征位点。
Proc Natl Acad Sci U S A. 1990 Feb;87(4):1606-10. doi: 10.1073/pnas.87.4.1606.
10
High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers.X连锁遗传性肾炎基因座附近DNA标记的高密度遗传图谱和物理图谱构建:侧翼多态性标记的定义与应用
Hum Genet. 1991 Dec;88(2):189-94. doi: 10.1007/BF00206070.