Allele

An alternative form of a gene that occurs at the same locus on homologous chromosomes,
e.g., A, B, and O genes are alleles.
Chromosome
Rod-shaped structures within the cell nucleus that carry genes encoded by DNA.
Crossing over
The exchange of genetic material between members of a pair of homologous chromosomes.
For example, if a mating between a male (MS/Ns) and a female (MS/MS) results in an
offspring who is MS/Ms, the recombinant child has occurred due to crossing over in the
father.
DNA
Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the genes that
allow genetic information to be passed to offspring.
Dominant gene
A gene is dominant if it is expressed when heterozygous but its allele is not, e.g. in the Lewis
system the Le gene is dominant (expressed in both Le Le and Le le genotypes) and
the le gene is recessive.
Gamete
A reproductive sex cell (ovum or sperm) with the haploid number (23) of chromosomes that
results from meiosis.
Gene
A segment of a DNA molecule that codes for the synthesis of a single polypeptide.
Genome
Term used to denote the entire DNA sequence (gene content) of a gamete, person,
population, or species.
Genotype
All of the alleles present at the locus (or closely linked loci) of a blood group system,
indicating chromosomal alignment if appropriate, e.g., AO in the ABO BGS, CDe/cde in the
Rh BGS, or MS/Ns in the MNSs BGS. Genotypes are indicated by superscripts, underlining,
or italics.
Heterozygous
The situation in which allelic genes are different, e.g. the Kk genotype in the Kell BGS or
the Fya Fyb genotype in the Duffy BGS.
Homozygous
The situation in which allelic genes are identical, e.g., the KK genotype or
the Fya Fya genotype.
Meiosis
The type of cell division that occurs in sex cells by which gametes having the haploid
number of chromosomes are produced from diploid cells.
Mitosis
Cell division that results in the formation of two cells, each with the same number of
chromosomes as the parent cells, i.e., cell division that forms all new cells except sex cells.
Mutation
A permanent inheritable change in a single gene (point mutation) that results in the existence
of two or more alleles occurring at the same locus. Blood group polymorphism has been
caused by mutations occurring over long periods of time.
Nucleic acids
Polymers of phosphorylated nucleosides, the building blocks of DNA and RNA.
Phenotype
The antigens (traits) that result from those genes that are directly expressed (can be directly
antigen typed), e.g., group A in the ABO BGS or D+C+E- c+e+ in the Rh BGS.
Proband
The family member whose phenotype leads to a family study. Also called an index case.
Ribosomes
Complexes of rRNA and protein in cytoplasm that serve as platforms for translation for
mRNA into protein.
RNA
Ribonucleic acid. Nucleic acids that are formed using DNA as a template. Similar to DNA
except has ribose in place of deoxyribose and uracil in place of thymine. (Also
see messenger RNA, ribosomal RNA, and transfer RNA.)
Sex chromosomes
The chromosomes that determine sex. XX in females and XY in males.
Translation
The process of translating the codon sequence in mRNA into polypeptides with the help of
tRNA and ribosomes.
Trans position
Genes in the trans position are on opposite chromosomes of a pair of homologous
chromosomes. In the genotype CDe/cde, for example, D and c genes are in the trans
position.
X-chromosome
The sex chromosome present in double dose in females (XX) and in single dose in males
(XY).
X-linked
Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and Xg a blood
group genes.
Y-chromosome
The sex chromosome present only in males (XY).