DNA diagnosis in monogenic diseases.

Autor: Alford RL; Baylor College of Medicine., Rossiter BJ, Caskey CT
Jazyk: angličtina
Zdroj: International journal of technology assessment in health care [Int J Technol Assess Health Care] 1994 Fall; Vol. 10 (4), pp. 628-43.
DOI: 10.1017/s0266462300008217
Abstrakt: Several routine procedures are available for diagnosis of diseases caused by an alteration in a single gene. These techniques include Southern analysis, the polymerase chain reaction, allele-specific oligonucleotide screening, automated DNA nucleotide sequencing, and linkage analysis. DNA testing procedures can be used for diagnosis of disease, determination of carrier status in affected families, or general screening of the population. Some of the more commonly used techniques and their applications are described in this article.
Databáze: MEDLINE