Download Down Syndrome (Genes and Disease) by F. Fay Evans-martin PDF

By F. Fay Evans-martin

Down syndrome is a developmental sickness attributable to the presence of an additional reproduction of chromosome 21. this additional genetic fabric factors alterations within the construction of varied proteins, corresponding to enzymes and mobilephone adhesion molecules, that could disrupt metabolic pathways and reason defects in organ improvement. smooth scientific advances and the improvement of early interventions have diminished the impression of Down syndrome, and accordingly, people with Down syndrome can now reside longer and feature fewer actual and highbrow problems. "Down Syndrome" explains this genetic disorder, its heritage and features, and what scientists are doing to check it.

Show description

Read or Download Down Syndrome (Genes and Disease) PDF

Similar personal health books

Birth Control Pills (Drugs: the Straight Facts)

Medicinal drugs are everywhere--on our streets, in our houses, and in our schools--but the directly proof approximately medications aren't.

Typhoid Fever (Deadly Diseases and Epidemics)

Typhoid remains to be a virulent disease in components of excessive inhabitants density within the much less built international locations of the area.

Obstetrics in Family Medicine: A Practical Guide

This booklet surveys the traditional obstetrics encountered in basic care and serves as a pragmatic consultant to the overview and administration of universal prenatal, peripartum and postpartum problems. completely revised and up-to-date, Obstetrics in relations medication, moment version, addresses the key matters and difficulties concerning every one degree and descriptions administration protocols.

Additional info for Down Syndrome (Genes and Disease)

Example text

This is called nondisjunction, which results in the mature egg or sperm cell having either one or three copies of a chromosome instead of the usual two copies. Monosomy, a type of aneuploidy in which only one copy of a particular chromosome is present, results in very few live births. As noted above, live births are seen with greater frequency with trisomy, a type of aneuploidy in which three copies of a particular chromosome are present. TRISOMY 21 Trisomy 21 is a condition in which chromosome 21 occurs in triplicate.

The fluorescent-labeled DNA fragments that are produced are then electrophoresed through either a very thin gel or through very thin (capillary) tubes made of glass. As the fragments separate and migrate, they pass a window through which the fluorescent labels are excited by a laser beam. A digital camera captures the light emissions and creates an image that is analyzed by a computer to produce a graph of the sequence produced by the four nucleotides, each of which is shown as a peak of a different color on the graph.

DNA Technology normal nucleotides. The fluorescent-labeled DNA fragments that are produced are then electrophoresed through either a very thin gel or through very thin (capillary) tubes made of glass. As the fragments separate and migrate, they pass a window through which the fluorescent labels are excited by a laser beam. A digital camera captures the light emissions and creates an image that is analyzed by a computer to produce a graph of the sequence produced by the four nucleotides, each of which is shown as a peak of a different color on the graph.

Download PDF sample

Rated 4.88 of 5 – based on 6 votes