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Apparent higher frequency of phenylketonuria in the Mexican state of Jalisco.

作者信息

Velázquez A, Bilbao G, González-Trujillo J L, Hernández D, Pérez-Andrade M E, Vela M, Cicerón I, Loera-Luna A, Cederbaum S, Phoenix B

机构信息

Nutritional Genetics Unit, Instituto de Investigaciones Biomédicas UNAM, Mexico City, Mexico.

出版信息

Hum Genet. 1996 Jan;97(1):99-102. doi: 10.1007/BF00218842.

DOI:10.1007/BF00218842
PMID:8557271
Abstract

The geographic origin of Mexican patients with phenylketonuria (PKU) in Mexico City and in southern California was studied. Compared to patients with other metabolic disorders, patients with PKU were significantly more likely to have originated from the Los Altos region of the state of Jalisco and its environs. The incidence of PKU among mentally retarded students attending special education schools was found to be significantly higher in Jalisco (particularly the Los Altos region) than in the neighboring state of Guanajuato (1.09% vs 0.3%). These results strongly suggest a "population of origin" effect, the mutant allele(s) having been introduced by the Spanish ancestors of the current population. Our findings also support the addition of PKU to the neonatal screening program for this region of Mexico.

摘要

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引用本文的文献

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本文引用的文献

1
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.一种用于在大量新生儿群体中检测苯丙酮尿症的简易苯丙氨酸方法。
Pediatrics. 1963 Sep;32:338-43.
2
Presence of the Mediterranean PKU mutation IVS10 in Latin America.拉丁美洲存在地中海型苯丙酮尿症突变IVS10。
Hum Mol Genet. 1993 Aug;2(8):1289-90. doi: 10.1093/hmg/2.8.1289.
3
HPLC assay of phenylalanine and tyrosine in blood spots on filter paper.滤纸上血斑中苯丙氨酸和酪氨酸的高效液相色谱测定法。
墨西哥经典型半乳糖血症患者样本中低等位基因异质性。
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S333-7. doi: 10.1007/s10545-008-0905-y. Epub 2008 Oct 29.
Clin Chim Acta. 1986 Apr 15;156(1):91-6. doi: 10.1016/0009-8981(86)90183-x.
4
Multiple origins for phenylketonuria in Europe.欧洲苯丙酮尿症的多种起源。
Am J Hum Genet. 1992 Dec;51(6):1355-65.
5
Frequency of inborn errors of metabolism, especially PKU, in some representative newborn screening centers around the world: a collaborative study.世界各地一些代表性新生儿筛查中心先天性代谢缺陷尤其是苯丙酮尿症的发病率:一项合作研究。
Humangenetik. 1975 Dec 23;30(4):273-86.