P.

MUTHUKARUPPAN
II M.Sc., BOTANY

Genetic Terminology
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.
Amorph
A silent gene that does not produce a detectable product (antigen), e.g., O genes in the ABO BGS.
Aneuploidy
Having an abnormal number of chromosomes, i.e., not an exact multiple of the haploid number.
For example, Downs syndrome (three #21 chromosomes) or Klinefelter syndrome (XXY males).
Anticodon
A sequence of three bases in tRNA that is complementary to a codon in mRNA. Enables tRNA to
sequence amino acids in the order specified by mRNA.
Autosome
A non-sex chromosome. Synonymous with somatic chromosomes (chromosome pairs 1-22).
Chromosome
Rod-shaped structures within the cell nucleus that carry genes encoded by DNA.
Cis position
Genes in the cis position are on the same chromosome of a pair of homologous chromosomes.
Mainly relates to the Rh BGS, e.g., in the genotype CDe/cde, D and C genes are in the cis
position.
Cloned gene
A recombinant DNA molecule with the gene of interest. (Also see recombinant DNA.)
Co-dominant
Genes are co-dominant if both alleles are expressed in the heterozygous state, e.g., K and k genes
in the Kell BGS.
Codon
A sequence of three bases in DNA or RNA that codes for a single amino acid. Enables specific
proteins to be made by specific genes.
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.
Diploid number of chromosomes
The number of chromosomes found in somatic cells, which in humans is 46.
Dizygotic twins
Twins produced from two separate ova that are separately fertilized, i.e. fraternal twins. Only
dizygotic twins can exhibit blood group chimerism (shown by mixed field agglutination when
antigen typing red cells).
DNA
Deoxyribonucleic acid. Composed of nucleic acids, these molecules encode the genes that allow
genetic information to be passed to offspring.
DNA polymerases
Enzymes that can synthesize new DNA strands using previously synthesized DNA (or RNA) as a
template.
DNA probe
A cloned DNA molecule labelled with a radioactive isotope (e.g., 32P or 35S) or a nonisotopic
label (e.g., biotin). Used in molecular genetics to identify complementary DNA sequences by
hybridizing to them.
Dominant gene

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II M.Sc., BOTANY

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.
Functional genes
Genes that produce proteins, e.g., blood group genes that produce antigens.
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.
Gene flow
Changes in gene frequencies that occur over long periods of time due to migration in which
different populations interbreed. An example is the transfer of genes between racial groups, e.g.,
the "white" genes of the Duffy blood group system (Fya Fyb) have an increased frequency in U.S.
blacks compared to African blacks.
Gene interaction
The situation in which genes inherited at different loci interact to produce red cell phenotypes,
e.g., Le le genes interact with Hh and Se se genes to produce the various Lewis red cell
phenotypes.
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.
Haploid number of chromosomes
The number of chromosomes found in sex cells, which in humans is 23.
Hardy-Weinberg law
A law developed in 1908 independently by George Hardy (an English mathematician) and
Wilhelm Weinberg (a German physician) that is the basis for calculations used in population
genetics. The law is described by the formula p2 + 2pg + q2 = 100%, where p is the frequency of
one allele, q is the frequency of the other, p2 and q2 are the homozygous frequencies, and 2pg is
the heterozygous frequency. The formula allows us to calculate the frequencies of genes,
phenotypes, and genotypes when the frequency of a genetic trait is known.
Hemizygous
Inheritance of an X-linked gene in males, e.g. the Xga gene or the gene for hemophilia A is said to
be hemizygous in males since they have only one X chromosome.
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.
Homologous chromosomes
A matched pair of chromosomes, one from each parent, e.g., two #6 chromosomes.
Homozygous
The situation in which allelic genes are identical, e.g., the KK genotype or the Fya Fya genotype.
Human Genome Project
A worldwide project to map and sequence the human genome. The ultimate goal is to produce the
complete nucleotide sequence of every human chromosome. (Also see HUGO.)
Immune response genes
Name given to genes that appear to be able to control whether a person is likely or unlikely to
make red cell antibodies. Help explain why some transfusion recipients are hyper-responders

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(make multiple alloantibodies) and others, even when transfused with a very immunogenic
antigen like D from the Rh system, never produce antibodies. (About 30% of D-negative people
appear incapable of making anti-D.) The genes that regulate the immune response may be linked
to the genes of the major histocompatibility complex (MHC) or may be the MHC genes
themselves.
Karyotype
A photomicrograph (photograph taken through a microscope) of all the chromosomes in a person,
arranged in standard classification (from #1 chromosomes through to the sex chromosomes).
Linkage
Genes are linked if they are on the same chromosome within a measurable distance of each other
and are normally inherited together, e.g., Lutheran and Secretor genes are linked as are the Dd,
Cc, Ee subloci in the Rh BGS.
Locus
The location of allelic genes on the chromosome, e.g., A, B, and O genes occur at the ABO locus.
(Plural = loci)
Mapping of genes
A variety of processes that include discovering that a gene is linked to another gene (which can
serve as a marker for it), assigning genes to particular chromosomes, assigning genes to specific
regions on chromosomes, and determining nucleotide sequences on chromosomes.
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.
Messenger RNA (mRNA)
Type of RNA polymerase using DNA as a template. Contains the codons that encompass the
genetic codes to be translated into protein.
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.
Modifying gene
A regulatory gene (usually at a different locus than blood group genes) that in some way alters
the expression of the blood group genes. Also called suppressor genes.
Monozygotic twins
Twins derived from a single fertilized ovum, i.e., identical twins.
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.
Nondisjunction
The failure of two members of a chromosome pair to disjoin during anaphase. For example, an
offspring with the AB/O genotype can be produced if a group AB male mates with a group O
female and nondisjunction happens in the father.
Northern blot
A blotting method used to analyze and detect RNA by using a DNA probe that will hybridize
with its complementary RNA strand. Named for its similarity to the Southern blot used to analyze
DNA.
Nucleic acids
Polymers of phosphorylated nucleosides, the building blocks of DNA and RNA.
Nucleoside
The building blocks of RNA and DNA. Compounds consisting of a purine (adenine or guanine)
or pyrimidine (thymine or cytosine) attached to ribose (in RNA) or deoxyribose (in DNA) at the
11 carbon.

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Operator
A short sequence of nucleotides that controls the adjacent structural (functional) genes.
Operon
A postulated unit of gene action that consists of an operator and the closely linked functional
genes it controls.
Pedigree
A diagram representing a family tree.
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.
Plasmid
Extrachromosomal circular DNA in bacteria. Plasmids can independently replicate and encode a
product for drug resistance or some other advantage. Used in molecular genetics as vectors for
cloned segments of DNA.
Polymerase chain reaction
An in vitro method of amplifying DNA sequences hundreds of millions to billions of times in a
few hours. Developed in 1984-1985 by Mullis, Saiki, et al.
Polymorphism
The existence of two or more different phenotypes resulting from two or more alleles, each with
an appreciable frequency. Most blood group systems are polymorphic.
Polypeptides
Polymers of amino acids that form the building blocks of proteins.
Population genetics
The branch of genetics that deals with how genes are distributed in populations and how gene and
genotype frequencies stay constant or change. Calculations are based on the Hardy-Weinberg
law.
Recessive
Genes are recessive if the phenotype that they code for is only expressed when the genes are
homozygous, e.g., le le genes, in the Lewis system or h h genes in the ABO BGS.
Recombinant
A person who has a new combination of genes not found together on the chromosome in either
parent, e.g., an MS/Ns offspring whose parents are Ms/NS and MS/MS. A recombinant results
from crossing over in one parent.
Recombinant DNA
In molecular genetics, artificially made DNA composed of fragments of DNA from different
chromosomes (often from different species) that have been joined together (spliced) by genetic
engineering. For example, healthcare workers are routinely vaccinated with a recombinant
hepatitis B vaccine made by inserting a piece of the hepatitis B virus genome (the part that codes
for the HBsAg) into yeast cells via a plasmid. The yeast cells then produce a large amount of
HBsAg, which is purified into the vaccine and stimulates the production of protective anti-
HBs antibodies.
Regulatory genes
In the operon model, genes that inhibit an operator gene so that it prevents its functional genes
from producing proteins.
Restriction endonucleases
DNA enzymes of bacterial origin that can cleave DNA at internal positions on a strand because
they recognize specific sequences (usually 4-6 base pairs). The enzymes evolved in bacteria as
defenses against the invasion of foreign DNA in the form of viruses or plasmids and are used in
molecular genetics to chop up DNA at particular locations.
Restriction fragment length polymorphisms (RFLP)

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Regions of DNA of varying lengths that can be cut out of DNA by restriction endonucleases.
Because the fragment lengths vary among individuals, they are polymorphic and can be used as
genetic markers.
Reverse transcriptase
An RNA-dependent DNA polymerase that synthesizes DNA from an RNA template. Used by
retroviruses like the human immunodeficiency virus (HIV) to make proviral DNA from its RNA
genome.
Ribosomal RNA (rRNA)
Type of RNA found in ribosomes, the site of protein synthesis in the cytoplasm.
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.
Sex-linked
An outdated term for genes on the X chromosome. Historically synonymous for X-linked since,
apart from genes essential for male sex determination, the Y chromosome appears to have few
recognized gene loci.
Somatic chromosome
A non-sex chromosome (soma=body). Synonym is autosome.
Southern blot
A blotting method developed in 1975 by E.M. Southern that detects restriction enzyme-cleaved
DNA by use of a labelled DNA probe that will hybridize with its complementary DNA strand.
Transcription
Synthesis of single-stranded RNA by RNA polymerase using DNA as a template. The process in
the nucleus whereby DNA is transcribed into mRNA.
Transfer RNA (tRNA)
Type of RNA that facilitates translation of mRNA into protein. Contains anticodons that provide
the molecular link between the codons of mRNA and the amino acid sequences of proteins.
Transient polymorphism
A temporary polymorphism in which an allele (harmful gene) is disappearing or an allele
(beneficial gene) is increasing in frequency.
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.
Western blot
An assay used to separate viral (and other) antigens and to identify corresponding antibodies to
the viral antigens. For example, the western blot is a relatively specific and sensitive test for
antibodies to HIV that is used as a confirmatory test for sera that are repeatedly reactive by EIA
(enzyme immunoassay) screening tests. Named western blot as a joke due to its similarity to the
Southern blot and since its discoverers worked in the western USA.
X-chromosome
The sex chromosome present in double dose in females (XX) and in single dose in males (XY).
X-linked

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Genes on the X chromosome, e.g., genes for hemophilia A, hemophilia B, and Xga blood group
genes.
Y-chromosome
The sex chromosome present only in males (XY).