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苯丙酮尿症基因座:与人类淀粉酶(Amy)基因座的遗传连锁及定位到连锁群I

PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.

作者信息

Kamarýt J, Mrskos A, Podhradská O, Kolcová V, Cabalska B, Duczyńska N, Borzymowska J

出版信息

Hum Genet. 1978 Aug 31;43(2):205-10. doi: 10.1007/BF00293596.

DOI:10.1007/BF00293596
PMID:308492
Abstract

The linked alpha-amylase loci Amy 1 and Amy 2 were evaluated for their linkage relationship to the PKU locus using data collected from two (one Czech and one Polish) groups of families. The five sibships informative for Amy 1:PKU give a z score of 1.505 at theta = 0.00 and the eight sibships informative for Amy 2:PKU give a z score of 2.709 at theta = 0.00. Due to the tandem position of Amy 1 and Amy 2 loci, these data could be combined, and linkage between Amy and PKU loci established with a z score 4,214 at theta = 0.00. The practical significance of the linkage, especially for identifying PKU allele carriers, is emphasized.

摘要

利用从两组(一组捷克家庭和一组波兰家庭)家庭收集的数据,对连锁的α-淀粉酶基因座Amy 1和Amy 2与苯丙酮尿症(PKU)基因座的连锁关系进行了评估。对Amy 1:PKU有信息价值的5个同胞组在θ = 0.00时的z值为1.505,对Amy 2:PKU有信息价值的8个同胞组在θ = 0.00时的z值为2.709。由于Amy 1和Amy 2基因座的串联位置,这些数据可以合并,并且在θ = 0.00时,Amy与PKU基因座之间建立了z值为4.214的连锁关系。强调了这种连锁关系的实际意义,特别是对于识别PKU等位基因携带者。

相似文献

1
PKU locus: genetic linkage with human amylase (Amy) loci and assignment to linkage group I.苯丙酮尿症基因座:与人类淀粉酶(Amy)基因座的遗传连锁及定位到连锁群I
Hum Genet. 1978 Aug 31;43(2):205-10. doi: 10.1007/BF00293596.
2
The genetic linkage between the PKU locus and the loci for amylase 1, amylase 2, Fy, PGM 1, and Rh and the question of assignment of the PKU locus to chromosome no. 1.苯丙酮尿症基因座与淀粉酶1、淀粉酶2、Fy、磷酸葡萄糖变位酶1和Rh基因座之间的遗传连锁以及将苯丙酮尿症基因座定位于第1号染色体的问题。
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3
Mouse alpha-amylase loci, Amy-1a and Amy-2a, are closely linked.小鼠α-淀粉酶基因座Amy-1a和Amy-2a紧密连锁。
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[Genetic control of several alpha-amylase isozymes in winter hexaploid wheat].[冬性六倍体小麦中几种α-淀粉酶同工酶的遗传控制]
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引用本文的文献

1
Phenylketonuria (PKU) and the single gene: an old story retold.苯丙酮尿症(PKU)与单基因:一个被重新讲述的古老故事。
Behav Genet. 1983 Mar;13(2):141-57. doi: 10.1007/BF01065663.
2
The PKU locus in man is on chromosome 12.人类的苯丙酮尿症基因座位于12号染色体上。
Am J Hum Genet. 1984 May;36(3):527-33.
3
The genetic linkage between the PKU locus and the loci for amylase 1, amylase 2, Fy, PGM 1, and Rh and the question of assignment of the PKU locus to chromosome no. 1.苯丙酮尿症基因座与淀粉酶1、淀粉酶2、Fy、磷酸葡萄糖变位酶1和Rh基因座之间的遗传连锁以及将苯丙酮尿症基因座定位于第1号染色体的问题。

本文引用的文献

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Phenylketonuria; data on 47 British families.苯丙酮尿症;47个英国家庭的数据。
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Possible linkage between uncoiler chromosome Un 1 and amylase polymorphism Amy 2 loci.解旋染色体Un 1与淀粉酶多态性Amy 2位点之间可能的连锁关系。
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Human amylase loci: genetic linkage with the Duffy blood group locus and assignment to linkage group I.人类淀粉酶基因座:与达菲血型基因座的遗传连锁及定位到连锁群I。
Am J Hum Genet. 1973 Sep;25(5):523-38.
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Probable genetic linkage between human serum amylase (Amy 2 ) and Duffy blood group.人类血清淀粉酶(Amy 2)与达菲血型之间可能存在基因连锁。
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A linkage study of phenylketonuria.苯丙酮尿症的连锁研究。
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