当前位置： SCI文献检索 > HUMAN GENETICS期刊下所有文献 > Characterization of mitochondrial haplogroups in a large population-based sample from the United States.

Characterization of mitochondrial haplogroups in a large population-based sample from the United States.

Abstract：

:Mitochondrial DNA (mtDNA) haplogroups are valuable for investigations in forensic science, molecular anthropology, and human genetics. In this study, we developed a custom panel of 61 mtDNA markers for high-throughput classification of European, African, and Native American/Asian mitochondrial haplogroup lineages. Using these mtDNA markers, we constructed a mitochondrial haplogroup classification tree and classified 18,832 participants from the National Health and Nutrition Examination Surveys (NHANES). To our knowledge, this is the largest study to date characterizing mitochondrial haplogroups in a population-based sample from the United States, and the first study characterizing mitochondrial haplogroup distributions in self-identified Mexican Americans separately from Hispanic Americans of other descent. We observed clear differences in the distribution of maternal genetic ancestry consistent with proposed admixture models for these subpopulations, underscoring the genetic heterogeneity of the United States Hispanic population. The mitochondrial haplogroup distributions in the other self-identified racial/ethnic groups within NHANES were largely comparable to previous studies. Mitochondrial haplogroup classification was highly concordant with self-identified race/ethnicity (SIRE) in non-Hispanic whites (94.8 %), but was considerably lower in admixed populations including non-Hispanic blacks (88.3 %), Mexican Americans (81.8 %), and other Hispanics (61.6 %), suggesting SIRE does not accurately reflect maternal genetic ancestry, particularly in populations with greater proportions of admixture. Thus, it is important to consider inconsistencies between SIRE and genetic ancestry when performing genetic association studies. The mitochondrial haplogroup data that we have generated, coupled with the epidemiologic variables in NHANES, is a valuable resource for future studies investigating the contribution of mtDNA variation to human health and disease.

journal_name

Hum Genet

journal_title

Human genetics

authors

Mitchell SL,Goodloe R,Brown-Gentry K,Pendergrass SA,Murdock DG,Crawford DC

doi

10.1007/s00439-014-1421-9

subject

Has Abstract

pub_date

2014-07-01 00:00:00

pages

861-8

issue

eissn

0340-6717

issn

1432-1203

journal_volume

133

pub_type

杂志文章

在线工具

Characterization of mitochondrial haplogroups in a large population-based sample from the United States.