High resolution prometaphase chromosome banding has allowed the detection of discrete chromosome aberrations which escaped earlier metaphase examinations. Consistent tiny deletions have been detected in some well established malformation syndromes: an interstitial deletion in 15q11/12 in the majority of patients with the Prader-Willi syndrome and in a minority of patients with the Angelman (hap...

One hundred and seventy-four rat loci which contain short tandem repeat sequences were extracted from the GenBank or EMBL data bases and used to define primers for amplification by the polymerase chain reaction (PCR) of the microsatellite regions, creating PCR-formatted sequence-tagged microsatellite sites (STMSs). One hundred and thirty-four STMSs for 118 loci, including 6 randomly cloned STMS...

The ability to maintain cognitive function during aging is a complex process subject to genetic and environmental influences. Alzheimer's disease (AD) is the most common disorder causing cognitive decline among the elderly. Among those with AD, there is broad variation in the relationship between AD neuropathology and clinical manifestations of dementia. Differences in expression of genes invol...

LI, LI. Disease Gene Mapping in General Pedigrees (under the direction of Dr. Bruce S. Weir and Dr. Sharon R. Browning) Disease gene mapping is one of the main focuses of genetic epidemiology and statistical genetics. This dissertation explores some methods and algorithms in this area, especially in pedigrees. The first chapter gives an introduction to human genetics and disease gene mapping. E...

SUMMARY The program DMLE+ allows Bayesian inference of the location of a gene carrying a mutation influencing a discrete trait (such as a disease) and/or other parameters of interest (such as mutation age) based on the observed linkage disequilibrium at multiple genetic markers. DMLE+ uses either individual marker genotypes, or haplotypes, integrates over uncertain population allele frequencies...

We describe a method for the rapid determination of the physical location of mutations caused by insertion of transposable elements. We used this method to construct a detailed physical map of the nitrogen fixation (nif) gene cluster of Klebsiella pneumoniae and to correlate it with the genetic map. Total cellular DNA was isolated from individual strains, each carrying an insertion in 1 of 15 d...

In this brief primer, we hope to provide a general overview on statistical methods for disease-gene mapping. Of course, this cannot be complete—our apologies to researchers whose methods are not mentioned below. More-detailed information may be found in relevant textbooks (Ott 1999) and at the Web Resources of Genetic Linkage Analysis site (Laboratory of Statistical Genetics, Rockefeller Univer...

Recombinant inbred lines of maize have been developed for the rapid mapping of molecular probes to chromosomal location. Two recombinant inbred families have been constructed from F2 populations of T232 X CM37 and CO159 X Tx303. A genetic map based largely on isozymes and restriction fragment length polymorphisms has been produced that covers virtually the entire maize genome. In order to map a...

The trait flowering time regulated by genes determining vernalisation and photoperiod sensitivity was used as an example for presenting data on comparative major gene and QTL mapping within the Triticeae. The major genes are shown to be members of homoeologous series. Furthermore it was demonstrated that in genome regions carrying major genes also QTLs for the same traits were detected.

BACKGROUND Damage to nerve cells and axons leading to neurodegeneration is a characteristic feature of many neurological diseases. The degree of genetic influence on susceptibility to axotomy-induced neuronal death has so far been unknown. We have examined two gene regions, Vra1 and Vra2, previously linked to nerve cell loss after ventral root avulsion in a rat F2 intercross between the DA and ...