53034-5

LOINC 2.82

Allelic state

Definition

  • The level of occurrence of a single DNA Marker within a set of chromosomes. Heterozygous indicates the DNA Marker is only present in one of the two genes contained in homologous chromosomes. Homozygous indicates the DNA Marker is present in both genes contained in homologous chromosomes. Hemizygous indicates the DNA Marker exists in the only single copy of a gene in a non-homologous chromosome (The male X and Y chromosome are non-homologous). Hemiplasmic indicates that the DNA Marker is present in some but not all of the copies of mitochondrial DNA. Homoplasmic indicates that the DNA Maker is present in all of the copies of mitochondrial DNA.

Component

  • Allelic state

Specimen / system

  • Bld/Tiss

Class

  • HL7.GENETICS

Property

  • Find

Scale

  • Nom

Method

  • Molgen

Related names

  • Blood; Finding; Findings; Genetic; Genetics; Genomic; Heredity; Heritable; HL7.GENETICS; Inherited; Molecular genetics; MOLPATH.GENERAL; Nominal; PCR; Point in time; Random; Tissue; Tissue, unspecified; WB; Whole blood; Whole blood or Tissue

Index terms

  • Blood
  • Finding
  • Findings
  • Genetic
  • Genetics
  • Genomic
  • Heredity
  • Heritable
  • HL7.GENETICS
  • Inherited
  • Molecular genetics
  • MOLPATH.GENERAL
  • Nominal
  • PCR
  • Point in time
  • Random
  • Tissue
  • Tissue, unspecified
  • WB
  • Whole blood
  • Whole blood or Tissue