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Author(s): SKUDER P; PLOMIN R; MCCLEARN GE; SMITH DL; VIGNETTI S; CHORNEY MJ; CHORNEY K; KASARDA S; THOMPSON LA; DETTERMAN DK; PETRILL SA; DANIELS J; OWEN MJ; MCGUFFIN P
Title: A POLYMORPHISM IN MITOCHONDRIAL-DNA ASSOCIATED WITH IQ
Source: INTELLIGENCE 21 (1): 1-11
Date: 1995 JUL-AUG
Document Type: Journal : Article
Address: PENN STATE UNIV,MILTON S HERSHEY MED CTR,UNIVERSITY PK,PA 16802.
CASE WESTERN RESERVE UNIV,CLEVELAND,OH 44106.
UNIV WALES COLL MED,CARDIFF CF4 4XN,S GLAM,WALES.
Abstract: In an allelic association study of 100 DNA markers in or near genes of neurological relevance, one restriction fragment length polymorphism (RFLP) yielded significant differences between high-and low-IQ groups in two independent samples. The goal of this article is to describe how we tracked down the specific gene marked by the RFLP and to introduce some current techniques used to apply molecular genetics to complex traits like IQ. The RFLP, EST00083, is a brain-expressed sequence tag site (BESTS) derived from a cDNA hippocampal library. The cDNA clone was shown to involve a chimera between genomic DNA on Chromosome 6 and mitochondrial DNA (mtDNA). The RFLP was localized in the mtDNA rather than the genomic DNA. The RFLP is an MspI restriction site (CCGG) at 15,925 base pairs of the complete mitochondrial genome in a gene that codes for the transfer RNA for threonine. The mitochondrial origin of the EST00083 RFLP explains why the RFLP is maternally transmitted and never yields heterozygotes. Although mtDNA could be associated with IQ, such an unusual result requires further replication.
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