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腺苷酸激酶基因座定位于9q32，α1-酸性糖蛋白基因座定位于9q31-q32。9q32-qter区域存在戈尔茨综合征基因座？

Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?

作者信息

Zuffardi O, Caiulo A, Maraschio P, Tupler R, Bianchi E, Amisano P, Beluffi G, Moratti R, Liguri G

机构信息

Dipartimento di Scienze Biochimiche, Università di Firenze, Italy.

出版信息

Hum Genet. 1989 Apr;82(1):17-9. doi: 10.1007/BF00288264.

DOI:10.1007/BF00288264
PMID:2541064
Abstract

Normal levels of adenylate kinase (AK-1) and of alpha 1-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (Focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.

摘要

在一名因母亲的染色体易位（4q35；9q32）导致9q32 - qter缺失的女孩中，发现腺苷酸激酶（AK - 1）和α1 - 酸性糖蛋白（ORM1）水平正常，从而将这些基因座排除在缺失区域之外。这些结果，以及与其他有用数据的比较，将AK - 1基因座定位到9q32，将ORM1基因座定位到9q31 - q32区域。该女孩有戈茨综合征（局灶性皮肤发育不全）的几种体征，在麦库西克目录（编号30560）中被列为X连锁显性疾病。我们的发现表明，戈茨综合征的基因座是常染色体的，位于9q32 - qter区域，或者存在两种这样的疾病，一种是常染色体的，一种是X连锁的。

相似文献

1
Regional assignment of the loci for adenylate kinase to 9q32 and for alpha 1-acid glycoprotein to 9q31-q32. A locus for Goltz syndrome in region 9q32-qter?腺苷酸激酶基因座定位于9q32，α1-酸性糖蛋白基因座定位于9q31-q32。9q32-qter区域存在戈尔茨综合征基因座？
Hum Genet. 1989 Apr;82(1):17-9. doi: 10.1007/BF00288264.
2
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3
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4
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.在一名患有9号染色体重复-缺失且腺苷酸激酶-1存在基因剂量效应的儿童的父亲中发现了臂间倒位，inv(9)(p22 q32)。
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引用本文的文献

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Lung disease recalling paraseptal emphysema in a patient with Goltz syndrome.戈茨综合征患者出现类似间隔旁肺气肿的肺部疾病。
Multidiscip Respir Med. 2016 Sep 13;11(1):36. doi: 10.1186/s40248-016-0069-9. eCollection 2016.
2
Are the nail-patella syndrome and the autosomal Goltz-like syndrome the phenotypic expressions of different alleles at the COL5A1 locus?指甲-髌骨综合征和常染色体戈耳茨样综合征是COL5A1基因座不同等位基因的表型表达吗？
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3
Identification of a highly polymorphic microsatellite VNTR within the argininosuccinate synthetase locus: exclusion of the dystonia gene on 9q32-34 as the cause of dopa-responsive dystonia in a large kindred.

本文引用的文献

1
X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
2
Focal dermal hypoplasia syndrome. Case report and literature review.局灶性真皮发育不全综合征。病例报告及文献综述。
J Am Acad Dermatol. 1983 Sep;9(3):443-51. doi: 10.1016/s0190-9622(83)70157-x.
3
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication-deletion of chromosome 9 and gene dosage effect for adenylate kinase-1.在一名患有9号染色体重复-缺失且腺苷酸激酶-1存在基因剂量效应的儿童的父亲中发现了臂间倒位，inv(9)(p22 q32)。
精氨基琥珀酸合成酶基因座内一个高度多态性微卫星VNTR的鉴定：在一个大家系中排除9q32 - 34上的肌张力障碍基因作为多巴反应性肌张力障碍的病因。
Am J Hum Genet. 1991 Jan;48(1):121-8.
4
Torsion dystonia genes in two populations confined to a small region on chromosome 9q32-34.扭转性肌张力障碍基因定位于9号染色体q32 - 34的一个小区域内的两个群体中。
Am J Hum Genet. 1991 Aug;49(2):366-71.
5
Inter-alpha-trypsin inhibitor (ITI): a useful genetic system in paternity testing. Evidence for polymorphic occurrence of ITI*3 and existence of a new allele, ITI*4.
Int J Legal Med. 1991;104(4):197-9. doi: 10.1007/BF01369806.
6
Mapping of the human COL5A1 gene to chromosome 9q34.3.人类COL5A1基因定位于9号染色体长臂3区4带3亚带。
Hum Genet. 1992 Sep-Oct;90(1-2):174-6. doi: 10.1007/BF00210769.
Clin Genet. 1980 Feb;17(2):129-36. doi: 10.1111/j.1399-0004.1980.tb00121.x.
4
Data on the incidence, segregation and linkage relations of the adenylate kinase (AK) polymorphism.关于腺苷酸激酶（AK）多态性的发病率、分离情况及连锁关系的数据。
Ann Hum Genet. 1968 Jan;31(3):237-42. doi: 10.1111/j.1469-1809.1968.tb00554.x.
5
Linkage of the loci for the nail-patella syndrome and adenylate kinase.指甲-髌骨综合征与腺苷酸激酶基因座的连锁关系。
Am J Hum Genet. 1969 Nov;21(6):606-30.
6
A chromosomal break and partial deletion of a number 9 chromosome.
Hum Hered. 1973;23(6):561-7. doi: 10.1159/000152623.
7
Chromosome survey of a hospital for the mentally subnormal. 2. Autosome abnormalities.一家收治精神发育迟滞患者医院的染色体调查。2. 常染色体异常
Clin Genet. 1972;3(4):226-48. doi: 10.1111/j.1399-0004.1972.tb04271.x.
8
Assignment of ABO locus to 9q31.3----qter by study of a family in which an intrachromosomal shift involving chromosome 9 is segregating.
Jinrui Idengaku Zasshi. 1986 Sep;31(3):289-96. doi: 10.1007/BF01870759.
9
Localization of human alpha 1 acid glycoprotein genes to 9q31----34.1.人类α1酸性糖蛋白基因定位于9q31----34.1。
Cytogenet Cell Genet. 1988;47(1-2):18-21. doi: 10.1159/000132497.
10
Segregation of marker loci in families with an inherited paracentric insertion of chromosome 9.9号染色体遗传性臂间插入家系中标记位点的分离
Am J Hum Genet. 1986 Nov;39(5):612-7.