LESSON IV.
LINKAGE AND RECOMBINATION
TOPIC I. LINKAGE GROUPS
Linkage can be classified as complete or incomplete.
Complete Linkage
- genes are so closely associated that they are always inherited together
- bent and shaven alleles are associated together on the same homologue and also when they are each
associated with normal alleles on the same homologue.
Incomplete Linkage
- not complete and gene pairs assort at least partially independent of each other.
Arrangement of Linked Genes
Two Types of Arrangement –
Cis Arrangement - two dominants may be located on one member of the chromosome pair,
with two recessives on the other. (AB/ab).
- coupling phase: linked genes A and B enter the zygote together because they are located on
the same chromosome.
Trans Arrangement - dominant of one pair and the recessive of the other may be located on
one chromosome of the pair, with the recessive of the first gene pair and the dominant of the
second gene pair on the other chromosome. (Ab/aB). – repulsion phase: linked genes being
located on separate chromosomes, enter the zygote separately.
CHROMOSOMES MAPPING: LINKAGE MAPS
Basis for Chromosome Mapping
- each gene has a particular, well defined locus in the chromosome.
- Linkage values would indicate the definite serial order for the genes in a chromosomes and would
serve as bases for mapping distance relations among linked genes.
Mapping Human Chromosomes
– Genome: entire set of DNA instructions found in a cell.
- utilizes somatic cell hybridization technique.
- involves the production of human-mouse hybrid cells. When mixed together a very few (one in a
million) mouse and human cells fuse.
- hybrid cells initially contain all 40 mouse chromosomes and all 46 human chromosomes.
- As human-mouse hybrid cells are cultured further, human chromosomes are progressively and
preferentially lost with each division cycle.
- Approximately one to fifteen human chromosomes are preferentially lost during the first several cell
generations.
TOPIC II. SEX-LINKED INHERITANCE
Sex-linked or X-linked genes
– genes located on the X chromosomes
Holandric Genes
– genes that occur on Y chromosomes can produce their effects only in males.
Incompletely Sex Linked
- Genes that occur on homologous portions of the X and Y chromosomes
SEX LINKAGE
– Hemophilia
– “bleeding”, One of the earliest known instances of the “linkage” of a specific character to sex
– disease in which the blood fails to clot normally
– Jews circumcision of male infants, had come across instances where bleeding could not be stopped.
- Acc. to Jewish Talmud (Book of Yabamuth), this regarded as a hereditary defect of it occurred in two
children of the same mother. The law then excused further offspring of this female from circumcision.
- Hemophilia had been carefully pedigreed and generally showed transmission through females who
were unaffected to some of their male offspring who were hemophilic.
- A dramatic linkage of this kind began with Queen Victoria of England, who passed the hemophilic gene
on to at least three of her nine children. Since about half of her sons were hemophilic, she was
undoubtedly heterozygous for this gene, carrying it on one of her X chromosomes.
- Note the the females are unaffected carriers of the disease; the disease appears in the sons of such
carries although their mating partners are normal; and the males who are free of the disease do not
pass it on.
GENERAL TYPES OF HEMOPHILIA
- each affects the production of thromboplastin, a substance necessary for blood clotting
Hemophilia A
– classic sex-linked type – can be detected by a reduction in the amount of a substance known
as antihemophilic factor (AHF or factor VIII), accounts for approximately 80 percent of known
hemophilia.
HHemophilia B
- “Christmas disease”
- caused by a reduction in the amount of plasma thromboplastin component (PTC) and accounts
for about 20 percent of Hemophiliacs. the gene for hemophilia B is not allelic to that of
Hemophilia A.
Hemophilia C
- interferes with the production of plasma thromboplastin antecedent (PTA)
- responsible for less than one percent of hemophiliacs
SEX LIMITED GENES
TOPIC V. CHEMICAL BASIS OF HEREDITY
The Chemical Nature of DNA
Nucleotides
– basic building block of nucleic acids (RNA & DNA).
– subunits of DNA that forms a long chain. – consists of 3 parts: (1) phosphate group, (2) deoxyribose, a
five-carbon sugar; (3) and a nitrogen containing base
– four different DNA Nucleotides acc. to bases:
Single ringed, PYRAMIDINES: Thymine (T) & Cytosine (C)
Double ringed, PURINESL Adenine (A) & Guanine (G)
