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.
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.
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。
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