Diagnostic Techniques in Medical Genetics


© Jules_Kitano/ShutterStock


CHAPTER 2


Diagnostic Techniques in Medical Genetics


CHAPTER OBJECTIVES




  • Review pedigree analysis and its associated terminology.
  • Discuss the methodology and applications for cytogenetic studies.
  • Explain fluorescence in situ hybridization.
  • Describe DNA analysis and biochemical analysis.

KEY TERMS



CFTR gene


Chromosome painting


Consanguineous


Cystic fibrosis


Inborn error of metabolism


Karyotype


Penetrance


Phenylalanine hydroxylase (PAH)


Phenylketonuria (PKU)


Polymerase chain reaction (PCR)


Probe


Sibling (sib)

Only gold members can continue reading. Log In or Register to continue

Related posts:

  1. Introduction
  2. Chronic Myelogenous Leukemia
  3. Hereditary Cardiomyopathies
  4. Ethical, Legal, and Social Issues

Stay updated, free articles. Join our Telegram channel
Tags:
Mar 23, 2020 | Posted by in NURSING | Comments Off on Diagnostic Techniques in Medical Genetics

Full access? Get Clinical Tree
Get Clinical Tree app for offline access