Linkage analysis using heterozygote detection in phenylketonuria
Linkage analysis using heterozygote detection in phenylketonuria
复制标题
使用苯丙酮尿症杂合子检测进行连锁分析
DOI：
10.1111/j.1399-0004.1979.tb00994.x
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发表时间：
1979
影响因子：
3.5
通讯作者：
W. Nance
中科院分区：
文献类型：
--
作者：
T. Paul;I. Brandt;L. Elsas;C. Jackson;C. Nance;W. Nance
利用苯丙酮尿症（PKU）杂合子检测的改进方法进行连锁调查。该方法基于对从85例专性杂合子和45例既未妊娠也未服用避孕药物的对照组中获得的半禁食、中午时间血液标本的研究。杂合子和正常人之间的最佳分离是用判别函数实现的，该判别函数涉及血清中苯丙氨酸、酪氨酸和色氨酸浓度的对数。根据上述函数，杂合子和对照分布的理论重叠面积为3.75%。在19个专性杂合子和13个控制怀孕或避孕药物，最好的分离实现了判别函数，涉及苯丙氨酸和酪氨酸的血清浓度的曲线图。理论重叠面积为8.23%。这些方程确定杂合子有足够的准确性，允许有效的遗传连锁分析。
This linkage investigation was undertaken utilizing an improved method for phenylketonuria (PKU) heterozygote detection. This method is based on studies of semi‐fasting, noon‐time, blood specimens obtained from 85 obligate heterozygotes and 45 controls who were neither pregnant nor on birth control medication. The best separation between heterozygotes and normals was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine, tyrosine and tryptophan. The theoretical overlap area between the distributions of heterozygotes and controls, based on the above function, was 3.75 %. In 19 obligate heterozygotes and 13 controls who were either pregnant or on birth control medication, the best separation was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine and tyrosine. The theoretical overlap area was 8.23 %. These equations identified heterozygotes with sufficient accuracy to permit efficient genetic linkage analysis.