Numbering and mapping of

genes on the chromosomes

By sreekutty shaji
Gene :A gene is the functional unit of heredity, occupying a particular segment of DNA at fixed
position on the chromosomes.it is responsible for a particular phenotypic character.
Genome-the complete set of genes or genetic material present in a cell or organism.

Gene mapping:
Gene mapping is the process of establishing the locations of genes on the chromosomes.
Mapping provides clues about which chromosome contains the gene and precisely where the gene
lies on that chromosome. Goal of gene mapping is to study the regulation and expression of genes.
Types of gene mapping :
Genetic linkage mapping
Physical mapping
Genetic linkage mapping:

Genetic mapping is the technique responsible for demonstrating the arrangement of genes
and DNA markers and their relative distances on a chromosome with the help of
recombination frequencies.
 A linkage map is a map based on the frequencies of recombination between markers
during crossover of homologous chromosomes.
 The greater the frequency of recombination (segregation) between two genetic markers,
the further apart they are assumed to be. Conversely, the lower the frequency of
recombination between the markers, the smaller the physical distance between them.
 Unit of distance in genetic maps = centiMorgans, cM
 1 cM = 1% chance of recombination between markers
Thomas Hunt Morgan’s Drosophila
melanogaster Genetic Linkage Map.
• This was the first successful gene
mapping work and provides
important evidence for the
Boveri–Sutton chromosome
theory of inheritance.
• The map shows the relative
positions of allelic characteristics
on the second Drosophila
chromosome.
• The distance between the genes
(map units) are equal to the
percentage of crossing-over events
that occurs between different
alleles
 Physical mapping
 Physical map is a technique used in molecular biology that shows the physical
locations of genes and other DNA sequences of interest. It is one of the gene mapping
techniques which can determine the sequence of DNA base pairs with high accuracy.
 There are different methods used to create a physical map:
• cytogenetic mapping,
• radiation hybrid mapping,
• sequence mapping.
• fluorescent in situ hybridization (FISH)
• restriction site mapping
 Cytogenetic or chromosome mapping

 A cytogenetic map is the visual appearance of a chromosome when

stained and examined under a microscope.

 Particularly important are visually distinct regions, called light and

dark bands, which give each of the chromosomes a unique appearance.

 The chromosome map or cytogenetic map is based on the karyotype.

 Chromosome are defined at the cytogenetic level based on their size and
staining pattern.
 A cytogenetic map shows the
appearance of a chromosome after
it is stained and examined under
a microscope.
 The combination of numbers and letters provide a
gene's “address” on a chromosome.

 The chromosome on which the gene can be found.

The first number or letter used to describe a gene's
location represents the chromosome

 Each human chromosome has a short arm ("p" for

"petit") and long arm ("q" for "queue"), separated by
a centromere.
 The ends of the chromosome are called telomeres.

 Each chromosome arm is divided into regions, or

cytogenetic bands, that can be seen using a
microscope and special stains.
 The cytogenetic bands are labeled p1, p2, p3, q1, q2,
q3, etc., counting from the centromere out toward
the telomeres.

 At higher resolutions, sub-bands can be seen within

the bands. The sub-bands are also numbered from
the centromere out toward the telomere.
 the cytogenetic map location of the CFTR gene is 7q31.2, which indicates it is on chromosome 7, q arm, band 3,
sub-band 1, and sub-sub-band 2.

• The ends of the chromosomes are labeled ptel

and qtel. For example, the notation 7qtel refers
to the end of the long arm of chromosome 7.

• “Cen” indicates that the gene is very close to

the centromere. For example, 16pcen refers to
the short arm of chromosome 16 near the
centromere.

• “Ter” stands for terminus, which indicates that

the gene is very close to the end of the p or q
arm. For example, 14qter refers to the tip of the
long arm, or the very end, of chromosome 14.
 Location of the HBB Gene:
Chromosome 11

• Sickle cell anemia (SCA) is an autosomal recessive disease

caused by a point mutation (SNP) in the hemoglobin beta
gene (HBB) found in region 15.5 on the short arm (p) of
chromosome 11.
• Mutations in the HBB gene cause sickle cell disease.
• Locus: 11p15.5
Location of FBN1gene:
chromosome 15

• Locus:15q21.1
• Fibrillin-1 is a protein that in humans is
encoded by the FBN1 gene, located on
chromosome 15.
• MFS is caused by a mutation in the ‘’FBN1’’
gene positioned at chromosome 15q21.1
resulting in a deconstructed form of
Fibrillin-1.
• Defects in fibrillin-1 results in elevated TGF-
β levels that directly correlate to MFS.
• Affected people have weak connective
tissue.
Location of HFE gene : chromosome 6
• Locus:chromosome 6 (6p21. 3)
• The HFE gene is located on chromosome 6 on
the short arm (p) in region 21.3 (6p21.3) and
consists of 7 exons spanning 12 kb.
• the HFE gene codes for the HFE protein
• HFE is most often the cause of hereditary
hemochromatosis
• . The HFE gene has two common mutations,
C282Y and H63D
Thank you