英国酯酶-D电泳变异体在视网膜母细胞瘤产前诊断中的效用评估。
An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom.
作者信息
Cowell J K, Jay M, Rutland P, Hungerford J
出版信息
Br J Cancer. 1987 Jun;55(6):661-4. doi: 10.1038/bjc.1987.135.
Abstract
Fifty retinoblastoma families have been studied. In 41 it has been possible to determine the esterase-D phenotypes in all family members. Seven families were informative for the enzyme polymorphism and in all cases cosegregation of the retinoblastoma gene and esterase-D alleles was demonstrated, giving a lod score of 2.61. When combined with other published reports the cumulative lod score is 13.69 with no recombination in 45 meioses. In 10-15% of retinoblastoma families therefore, it is possible to offer prenatal diagnosis using the ESD protein polymorphism. The application of this test to the retinoblastoma population in the UK is limited by the low frequency of the rarer allele (0.116) and, as a result of genetic counseling, the smaller families generally associated with retinoblastoma.
摘要
对50个视网膜母细胞瘤家族进行了研究。在41个家族中，已能够确定所有家族成员的酯酶-D表型。7个家族的酶多态性具有信息性，在所有病例中均证实视网膜母细胞瘤基因与酯酶-D等位基因共分离，连锁值为2.61。与其他已发表的报告相结合，累积连锁值为13.69，在45次减数分裂中无重组。因此，在10%-15%的视网膜母细胞瘤家族中，可以利用ESD蛋白多态性进行产前诊断。该检测方法在英国视网膜母细胞瘤人群中的应用受到罕见等位基因低频（0.116）的限制，并且由于遗传咨询，视网膜母细胞瘤通常与较小的家族相关。
相似文献
1
An assessment of the usefulness of electrophoretic variants of esterase-D in the antenatal diagnosis of retinoblastoma in the United Kingdom.英国酯酶-D电泳变异体在视网膜母细胞瘤产前诊断中的效用评估。
Br J Cancer. 1987 Jun;55(6):661-4. doi: 10.1038/bjc.1987.135.
2
Accuracy of detection of the retinoblastoma gene by esterase D linkage.通过酯酶D连锁检测视网膜母细胞瘤基因的准确性
Arch Ophthalmol. 1985 Sep;103(9):1329-31. doi: 10.1001/archopht.1985.01050090081036.
3
Esterase D assay in Brazilian retinoblastoma families.巴西视网膜母细胞瘤家族中的酯酶D检测
Am J Med Genet. 1989 Nov;34(3):391-6. doi: 10.1002/ajmg.1320340314.
4
A "new" allele of esterase D in a retinoblastoma family.视网膜母细胞瘤家族中酯酶D的一个“新”等位基因。
Hum Genet. 1988 Mar;78(3):289-90. doi: 10.1007/BF00291680.
5
[Retinoblastoma and esterase D II. The oncogenesis of retinoblastoma and the phenotype of esterase D].[视网膜母细胞瘤与酯酶D II。视网膜母细胞瘤的肿瘤发生及酯酶D的表型]
Yan Ke Xue Bao. 1987 Dec;3(4):214-7.
6
[Lausanne study of retinoblastoma, 1986-90: deletion of esterase D locus in a collective of 128 patients].
Klin Monbl Augenheilkd. 1991 May;198(5):419-24. doi: 10.1055/s-2008-1045999.
7
Linkage of genes for human esterase D and hereditary retinoblastoma.人类酯酶D基因与遗传性视网膜母细胞瘤的连锁关系。
Am J Ophthalmol. 1984 Jun;97(6):681-5. doi: 10.1016/0002-9394(84)90497-5.
8
Deletions of the esterase D locus from a survey of 200 retinoblastoma patients.对200例视网膜母细胞瘤患者进行调查，检测酯酶D基因座缺失情况。
Hum Genet. 1986 Feb;72(2):164-7. doi: 10.1007/BF00283938.
9
Activity of red cell esterase D in 50 cases of retinoblastoma patients and their family members.50例视网膜母细胞瘤患者及其家庭成员的红细胞酯酶D活性
Ophthalmic Paediatr Genet. 1987 Mar;8(1):19-21. doi: 10.3109/13816818709028510.
10
Human esterase D gene: complete cDNA sequence, genomic structure, and application in the genetic diagnosis of human retinoblastoma.人类酯酶D基因：完整的cDNA序列、基因组结构及其在人类视网膜母细胞瘤基因诊断中的应用。
Hum Genet. 1988 Jun;79(2):137-41. doi: 10.1007/BF00280552.
引用本文的文献
1
Mechanisms of oncogenesis in patients with familial retinoblastoma.家族性视网膜母细胞瘤患者的肿瘤发生机制。
Br J Cancer. 1993 Nov;68(5):958-64. doi: 10.1038/bjc.1993.461.
2
Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees.男性视网膜母细胞瘤的推定非孟德尔遗传：150个家系的表型分离分析
Hum Genet. 1994 Nov;94(5):484-90. doi: 10.1007/BF00211012.
3
A "new" allele of esterase D in a retinoblastoma family.视网膜母细胞瘤家族中酯酶D的一个“新”等位基因。
Hum Genet. 1988 Mar;78(3):289-90. doi: 10.1007/BF00291680.
4
Retinoblastoma--clinical and genetic aspects: a review.视网膜母细胞瘤——临床与遗传学方面：综述
J R Soc Med. 1988 Apr;81(4):220-3. doi: 10.1177/014107688808100412.
5
Deletion of chromosome region 13q14 is transmissible and does not always predispose to retinoblastoma.
Hum Genet. 1988 Sep;80(1):43-5. doi: 10.1007/BF00451453.
6
Genetic counselling in retinoblastoma: importance of ocular fundus examination of first degree relatives and linkage analysis.视网膜母细胞瘤的遗传咨询：一级亲属眼底检查及连锁分析的重要性
Br J Ophthalmol. 1991 Mar;75(3):147-50. doi: 10.1136/bjo.75.3.147.
7
The genetics of retinoblastoma.视网膜母细胞瘤的遗传学
Br J Cancer. 1991 Mar;63(3):333-6. doi: 10.1038/bjc.1991.79.
8
Application of intragenic DNA probes in prenatal screening for retinoblastoma gene carriers in the United Kingdom.基因内DNA探针在英国视网膜母细胞瘤基因携带者产前筛查中的应用。
Arch Dis Child. 1990 Jul;65(7 Spec No):651-6. doi: 10.1136/adc.65.7_spec_no.651.
本文引用的文献
1
Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14.人类酯酶D和视网膜母细胞瘤基因在13号染色体14区带的区域定位。
Science. 1980 May 30;208(4447):1042-4. doi: 10.1126/science.7375916.
2
Retinoma: spontaneous regression of retinoblastoma or benign manifestation of the mutation?视网膜瘤：视网膜母细胞瘤的自发消退还是突变的良性表现？
Br J Cancer. 1982 Apr;45(4):513-21. doi: 10.1038/bjc.1982.87.
3
Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D.通过与酯酶D的连锁分析，将遗传性视网膜母细胞瘤基因定位于人类第13号染色体。
Science. 1983 Feb 25;219(4587):971-3. doi: 10.1126/science.6823558.
4
Linkage of genes for human esterase D and hereditary retinoblastoma.人类酯酶D基因与遗传性视网膜母细胞瘤的连锁关系。
Am J Ophthalmol. 1984 Jun;97(6):681-5. doi: 10.1016/0002-9394(84)90497-5.
5
Differential enzyme activities in human esterase D phenotypes.人类酯酶D表型中的差异酶活性。
Hum Genet. 1984;66(2-3):168-70. doi: 10.1007/BF00286594.
6
Familial, EsD-linked, retinoblastoma with reduced penetrance and variable expressivity.家族性、与酯酶D（EsD）相关、具有降低的外显率和可变表达的视网膜母细胞瘤。
Hum Genet. 1983;65(2):122-4. doi: 10.1007/BF00286647.
7
Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3).一名散发型视网膜母细胞瘤且伴有del(13)(q14.1q22.3)的患者中视网膜母细胞瘤和酯酶D基因座的分离
Hum Genet. 1984;68(3):258-9. doi: 10.1007/BF00418397.
8
Method of sampling chorionic villi in first trimester of pregnancy under guidance of real time ultrasound.孕早期实时超声引导下绒毛取样方法
Br Med J (Clin Res Ed). 1983 May 14;286(6377):1542-4. doi: 10.1136/bmj.286.6377.1542.
9
A single-operator technique for first-trimester chorion biopsy.
Lancet. 1983 Dec 10;2(8363):1340-1. doi: 10.1016/s0140-6736(83)91095-4.
10
The incidence of rare alleles determining electrophoretic variants: data on 43 enzyme loci in man.决定电泳变异体的稀有等位基因的发生率：人类43个酶位点的数据。
Ann Hum Genet. 1974 Jan;37(3):237-53. doi: 10.1111/j.1469-1809.1974.tb01832.x.
Zotero 插件