Prevalence and Distribution of the c.1436C→T Sequence Variant of Carnitine Palmitoyltransferase 1A among Alaska Native Infants

被引：23

作者：

Gessner, Bradford D. ^{[1
]}

Gillingham, Melanie B. ^{[2
]}

Johnson, Monique A. ^{[2
]}

Richards, C. Sue ^{[2
]}

Lambert, William E. ^{[3
]}

Sesser, David ^{[5
]}

Rien, Leanne C. ^{[5
]}

Hermerath, Cheryl A. ^{[5
]}

Skeels, Michael R. ^{[5
]}

Birch, Stephanie ^{[1
]}

Harding, Cary O. ^{[2
]}

Wood, Thalia ^{[1
]}

Koeller, David M. ^{[2
,4
]}

机构：

[1] Alaska Div Publ Hlth, Anchorage, AK USA

[2] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97201 USA

[3] Oregon Hlth & Sci Univ, Dept Publ Hlth & Prevent Med, Portland, OR 97201 USA

[4] Oregon Hlth & Sci Univ, Dept Pediat, Portland, OR 97201 USA

[5] Oregon State Publ Hlth Lab, NW Reg Newborn Screening Program, Hillsboro, OR USA

来源：

JOURNAL OF PEDIATRICS | 2011年 / 158卷 / 01期

关键词：

ACYLCARNITINE PROFILES; I DEFICIENCY;

D O I：

10.1016/j.jpeds.2010.07.031

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Objectives To use genotype analysis to determine the prevalence of the c.1436C -> T sequence variant in carnitine palmitoyltransferase 1A (CPT1A) among Alaskan infants, and evaluate the sensitivity of newborn screening by tandem mass spectrometry (MS/MS) to identify homozygous infants. Study design We compared MS/MS and DNA analyses of 2409 newborn blood spots collected over 3 consecutive months. Results Of 2409 infants, 166 (6.9%) were homozygous for the variant, all but one of whom were of Alaska Native race. None of the homozygous infants was identified by MS/MS on the first newborn screen using a C0/C16 + C18 cutoff of 130. Among 633 Alaska Native infants, 165 (26.1%) were homozygous and 218 (34.4%) were heterozygous for the variant. The prevalence was highest in Alaska's northern/western regions (51.2% of 255 infants homozygous; allele frequency, 0.7). Conclusions The CPT1A c.1436C -> T variant is prevalent among some Alaska Native peoples, but newborn screening using current MS/MS cutoffs is not an effective means to identify homozygous infants. The clinical consequences of the partial CPT1A deficiency associated with this variant are unknown. If effects are substantial, revision of newborn screening, including Alaska-specific MS/MS cutoffs and confirmatory genotyping, may be needed. (J Pediatr 2011; 158: 46-51).

引用

页码：46 / 51

页数：6

共 23 条

[1] Trends in diabetes prevalence among American Indian and Alaska native children, adolescents, and young adults [J].