The essence of SNPs

AJ Brookes - Gene, 1999 - Elsevier
Single nucleotide polymorphisms (SNPs) are an abundant form of genome variation,
distinguished from rare variations by a requirement for the least abundant allele to have a …

ACE Polymorphisms

FA Sayed-Tabatabaei, BA Oostra, A Isaacs… - Circulation …, 2006 - Am Heart Assoc
Angiotensin converting enzyme (ACE) plays an essential role in two physiological systems,
one leading to the production of angiotensin II and the other to the degradation of …

Population-based prevalence of myotonic dystrophy type 1 using genetic analysis of statewide blood screening program

NE Johnson, RJ Butterfield, K Mayne, T Newcomb… - Neurology, 2021 - AAN Enterprises
Objective To determine whether the genetic prevalence of the CTG expansion in the DMPK
gene associated with myotonic dystrophy type 1 (DM1) in an unbiased cohort is higher than …

The structure of haplotype blocks in the human genome

SB Gabriel, SF Schaffner, H Nguyen, JM Moore, J Roy… - science, 2002 - science.org
Haplotype-based methods offer a powerful approach to disease gene map**, based on
the association between causal mutations and the ancestral haplotypes on which they …

[書籍][B] Myotonic dystrophy

P Harper - 2009 - books.google.com
Myotonic dystrophy is part of the group of muscular dystrophies. It is the commonest
inherited muscular dystrophy and has a profound effect on individuals who are diagnosed …

Implications of biogeography of human populations for'race'and medicine

SA Tishkoff, KK Kidd - Nature genetics, 2004 - nature.com
In this review, we focus on the biogeographical distribution of genetic variation and address
whether or not populations cluster according to the popular concept of'race'. We show that …

Gilles de la Tourette syndrome

MM Robertson, V Eapen, HS Singer… - Nature reviews Disease …, 2017 - nature.com
Gilles de la Tourette syndrome (GTS) is a childhood-onset neurodevelopmental disorder
that is characterized by several motor and phonic tics. Tics usually develop before 10 years …

Microhaplotypes in forensic genetics

F Oldoni, KK Kidd, D Podini - Forensic Science International: Genetics, 2019 - Elsevier
Microhaplotype loci (microhaps, MHs) are a novel type of molecular marker of less than 300
nucleotides, defined by two or more closely linked SNPs associated in multiple allelic …

Haplotype Diversity and Linkage Disequilibrium at Human G6PD: Recent Origin of Alleles That Confer Malarial Resistance

SA Tishkoff, R Varkonyi, N Cahinhinan, S Abbes… - Science, 2001 - science.org
The frequencies of low-activity alleles of glucose-6-phosphate dehydrogenase in humans
are highly correlated with the prevalence of malaria. These “deficiency” alleles are thought …

Domestication to Crop Improvement: Genetic Resources for Sorghum and Saccharum (Andropogoneae)

SL Dillon, FM Shapter, RJ Henry, G Cordeiro… - Annals of …, 2007 - academic.oup.com
Abstract Background Both sorghum (Sorghum bicolor) and sugarcane (Saccharum
officinarum) are members of the Andropogoneae tribe in the Poaceae and are each other's …