成人多囊肾病（PKD1）在16号染色体上的多点定位。
Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.
作者信息
Pignatelli P M, Pound S E, Carothers A D, Macnicol A M, Allan P L, Watson M L, Wright A F
机构信息
MRC Human Genetics Unit, Western General Hospital, Edinburgh.
出版信息
J Med Genet. 1992 Sep;29(9):638-41. doi: 10.1136/jmg.29.9.638.
Abstract
Analysis of genetic linkage data in 33 adult onset polycystic kidney (ADPKD) families was carried out using probes for the D16S85, D16S84, and D16S94 loci. The data set of 33 families shows no evidence of genetic heterogeneity since one unlinked family was previously excluded. Two point linkage analysis showed maximum likelihood values of the recombination fraction of 0.07 for ADPKD and D16S85 (lod score 18.78), 0.02 for ADPKD and D16S84 (lod score 7.55), and 0.00 for ADPKD and D16S94 (lod score 6.73). Multipoint analysis showed a maximum likelihood order of tel-D16S85-0.06-D16S84-0.02-(PKD1, D16S94)-cen with a multipoint lod score of 32.16. Analysis of rare recombinants lying close to PKD1 gave results consistent with this order.
摘要
利用针对D16S85、D16S84和D16S94基因座的探针，对33个成人多囊肾（ADPKD）家系的遗传连锁数据进行了分析。由于之前已排除一个不连锁的家系，这33个家系的数据集未显示出遗传异质性的证据。两点连锁分析显示，ADPKD与D16S85的重组率最大似然值为0.07（优势对数分数为18.78），ADPKD与D16S84的重组率为0.02（优势对数分数为7.55），ADPKD与D16S94的重组率为0.00（优势对数分数为6.73）。多点分析显示，最大似然顺序为端粒-D16S85-0.06-D16S84-0.02-（PKD1，D16S94）-着丝粒，多点优势对数分数为32.16。对靠近PKD1的罕见重组体的分析结果与此顺序一致。
相似文献
1
Multipoint mapping of adult onset polycystic kidney disease (PKD1) on chromosome 16.成人多囊肾病（PKD1）在16号染色体上的多点定位。
J Med Genet. 1992 Sep;29(9):638-41. doi: 10.1136/jmg.29.9.638.
2
A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families.一项对35个成年发病型多囊肾病家庭的基因连锁异质性研究。
Hum Genet. 1993 Jan;90(5):569-71. doi: 10.1007/BF00217461.
3
Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population.评估西班牙人群常染色体显性多囊肾病（ADPKD）中的基因座异质性。
J Med Genet. 1993 Nov;30(11):910-3. doi: 10.1136/jmg.30.11.910.
4
Linkage exclusion between the autosomal dominant polycystic kidney disease locus and chromosome 16 markers in a new family.一个新家族中常染色体显性多囊肾病基因座与16号染色体标记之间的连锁排除
J Am Soc Nephrol. 1991 Oct;2(4):913-9. doi: 10.1681/ASN.V24913.
5
Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis.患有常染色体显性多囊肾病的冰岛家庭：连锁分析显示与16号染色体p13.3区域不连锁的家庭。
Hum Genet. 1993 Jul;91(6):609-13. doi: 10.1007/BF00205089.
6
Evidence for linkage disequilibrium between D16S94 and the adult onset polycystic kidney disease (PKD1) gene.D16S94与成人多囊肾病（PKD1）基因之间连锁不平衡的证据。
J Med Genet. 1992 Apr;29(4):247-8. doi: 10.1136/jmg.29.4.247.
7
Linkage disequilibrium in the region of the autosomal dominant polycystic kidney disease gene (PKD1).常染色体显性多囊肾病基因（PKD1）区域的连锁不平衡。
Am J Hum Genet. 1994 Aug;55(2):365-71.
8
Linkage analysis for the diagnosis of autosomal dominant polycystic kidney disease, and for the determination of genetic heterogeneity in Italian families.用于常染色体显性多囊肾病诊断及意大利家族遗传异质性测定的连锁分析。
Clin Genet. 1991 Oct;40(4):287-97. doi: 10.1111/j.1399-0004.1991.tb03098.x.
9
Autosomal dominant polycystic kidney disease with minimal clinical expression unlinked to the PKD1 locus.与PKD1基因座无关的临床表现轻微的常染色体显性遗传性多囊肾病。
Nephrol Dial Transplant. 1993;8(6):491-4. doi: 10.1093/ndt/8.6.491.
10
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease.结节性硬化症一个重要基因位点与多囊肾病16号染色体标记的连锁关系。
Nat Genet. 1992 Sep;2(1):37-41. doi: 10.1038/ng0992-37.
引用本文的文献
1
Establishment of transgenic pigs overexpressing human mutant.过表达人类突变体的转基因猪的建立。
Front Genet. 2022 Nov 14;13:1059682. doi: 10.3389/fgene.2022.1059682. eCollection 2022.
2
Identification of ADPKD-Related Genes and Pathways in Cells Overexpressing .鉴定细胞过表达. 相关的 ADPKD 基因和途径。
Genes (Basel). 2020 Jan 22;11(2):122. doi: 10.3390/genes11020122.
3
PKD1 mono-allelic knockout is sufficient to trigger renal cystogenesis in a mini-pig model.PKD1 单等位基因突变足以在小型猪模型中引发肾脏囊肿发生。
Int J Biol Sci. 2015 Feb 10;11(4):361-9. doi: 10.7150/ijbs.10858. eCollection 2015.
4
Genetically modified pigs to model human diseases.用于模拟人类疾病的转基因猪。
J Appl Genet. 2014 Feb;55(1):53-64. doi: 10.1007/s13353-013-0182-9.
5
Construction of a transgenic pig model overexpressing polycystic kidney disease 2 (PKD2) gene.构建过表达多囊肾病 2 （PKD2）基因的转基因猪模型。
Transgenic Res. 2013 Aug;22(4):861-7. doi: 10.1007/s11248-012-9686-z. Epub 2013 Jan 13.
6
A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families.一项对35个成年发病型多囊肾病家庭的基因连锁异质性研究。
Hum Genet. 1993 Jan;90(5):569-71. doi: 10.1007/BF00217461.
7
Haplotype analysis in autosomal dominant polycystic kidney disease.常染色体显性多囊肾病中的单倍型分析
J Med Genet. 1995 Mar;32(3):208-12. doi: 10.1136/jmg.32.3.208.
本文引用的文献
1
Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling.成人多囊肾病临床发病年龄及超声检测年龄：遗传咨询数据
Am J Med Genet. 1984 May;18(1):45-53. doi: 10.1002/ajmg.1320180108.
2
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
3
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.从流式分选染色体克隆的DNA片段在人类X染色体上的区域定位。
Nucleic Acids Res. 1982 Mar 11;10(5):1557-78. doi: 10.1093/nar/10.5.1557.
4
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
5
A genetic linkage map of the human genome.人类基因组的遗传连锁图谱。
Cell. 1987 Oct 23;51(2):319-37. doi: 10.1016/0092-8674(87)90158-9.
6
A study of genetic linkage heterogeneity in adult polycystic kidney disease.成人多囊肾病的遗传连锁异质性研究。
Hum Genet. 1987 Aug;76(4):348-51. doi: 10.1007/BF00272443.
7
Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP.人类α-珠蛋白定位于16号染色体上PGP远端的pter-p13.3区域。
Hum Genet. 1987 Jul;76(3):287-9. doi: 10.1007/BF00283625.
8
Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.人类α-珠蛋白基因簇下游高变区的分子特征分析
EMBO J. 1986 Aug;5(8):1857-63. doi: 10.1002/j.1460-2075.1986.tb04437.x.
9
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16.一个与16号染色体上成人多囊肾病相关的高度多态性DNA标记。
Nature. 1985;317(6037):542-4. doi: 10.1038/317542a0.
10
Regional localization of the autosomal dominant polycystic kidney disease locus.常染色体显性多囊肾病基因座的区域定位。
Genomics. 1988 Aug;3(2):150-5. doi: 10.1016/0888-7543(88)90146-2.
Zotero 插件