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Appalachian Mental Health by Susan E. Keefe

By Susan E. Keefe

"This quantity is the 1st to discover greatly many very important theoretical and utilized matters about the psychological well-being of Appalachians. The authors--anthropologists, psychologists, social employees and others--overturn many assumptions held through past writers, who've tended to work out Appalachia and its humans as being ruled via a tradition of poverty."

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Therefore, affected fathers will have genetically normal sons and obligate carrier daughters (Fig. 2-1C). 4 Usually the expression of one of the two X-chromosomes in females is suppressed randomly in each cell early in embryonic development. If nonrandom or skewed X-inactivation occurs, such that the X-chromosome carrying a mutant allele for anX-linked recessive trait is predominantly the activeX-chromosome, then a phenotype will be manifested in a carrier female. In normal females, a "bell-shaped" or Gaussian distribution represents X-inactivation patterns with a 50:50 average ratio.

Expansion of a novel CAG trinucleotide repeat in the 5▲ region of PPP2R2B is associated with SCA12. Nat Genet. 1999;23:391■392. Holmes SE, Hearn EO, Ross CA, et al. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res Bull. 2001;56:397■403. Holmes SE, O' Hearn E, Rosenblatt A, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001;29:377■378. Chapter 2 Mendelian, Nonmendelian,and Multigenic Inheritanceand Complex Traits Kensuke Shiga Ken Inoue James R.

Because of the cytoplasmic localization and high copy number of mitochondria, mitochondrial DNA (mtDNA) or the mitochondrial genome has a unique inheritance pattern (see Chapter 13). 6 kilobase pairs (kbp) located within the mitochondrial matrix in the cytoplasm of the cell. It encodes 13 polypeptides of subunits of the mitochondrial respiratory chain and oxidative phosphorylation system, 2 rRNAs, and 22 tRNAs. Each human cell contains hundreds of mitochondria, and each mitochondrion contains 5 to 10 mitochondrial genomes.

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