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Genetics and Teratology
Genetics and Teratology
on genetics
and teratology
Mendel conducted crossing experiment between true breeding plants for these 7
traits by emasculations and reciprocal crosses.
A cross between 2 parents differing in single trait is monohybrid cross.
A cross between 2 parents differing in 2 traits is dihybrid cross.
Human genetics deals with the variations between humans. These variations
are, in part, reflections of differences that exist at the DNA level.
Chromosome features:
(a) Chromatids: Metaphase chromosomes are divided longitudinally into two
sister chromatids.
(b) Centromere: The chromatids are held together at the centromere, or primary
constriction, which delineates the chromosome into a short arm (p) and a long arm
(q).
(c) Centromere position: Chromosomes are divided into three groups based on
centromere location.
1) Metacentric chromosomes: (such as chromosome 1), have a central
centromere.
2) Sub metacentric chromosomes: (such as chromosome 6), have a centromere
that is displaced from the center.
3) Acrocentric chromosomes: (such as chromosome 13), have a
centromere near one end.
It consists of 23 pairs of chromosomes: 22 homologous pairs of autosomes and one
pair of sex chromosomes.
Structural defects are when a specific body part is missing or malformed. The most
common structural defects are:
heart defects
cleft lip or palate, when there’s an opening or split in the lip or roof of the
mouth
spina bifida, when the spinal cord doesn’t develop properly
clubfoot, when the foot points inward instead of forward
Functional or developmental birth defects cause a body part or system not to work
properly. These often cause disabilities of intelligence or development. Functional
or developmental birth defects include metabolic defects, sensory problems, and
nervous system problems. Metabolic defects cause problems with the baby’s body
chemistry.
Prenatal Diagnosis
Definition
1. Prenatal diagnosis is the process that aims at reaching a diagnosis regarding the
presence or absence as well as the nature of a possible genetic or dysmorphic
disorder present in a fetus.
2. Prenatal diagnosis allows the detection of birth defects and genetic disorders
before delivery giving the parents the option of pregnancy termination or
additional time for emotional adjustment.
Indications
1. Prenatal diagnosis is indicated in cases with increased risk of birth defect or
genetic disease such as:
1. Women >35 years (risk of Down syndrome)
2. Elevated maternal serum alpha fetoprotein (risk of open defect, e.g. neural tube
defects)
3. Low maternal serum alpha fetoprotein (risk of Down syndrome)
4. Prior history of autosomal trisomy (risk of trisomy)
5. Parents with balanced chromosomal translocation (risk of unbalanced
karyotype). Balanced translocation means translocation of a part of a chromosome
to another chromosome within the same cell so that the genetic material of the
whole cell is not changed.
6. Family history of genetic disorder or carrier parent (risk of specific disorder in
family)
7. Family history of isolated structural defect (risk of same structural defect).
PRINCIPLES OF TERATOLOGY
Principle 1: Susceptibility to teratogenesis depends on the genotype of the
conceptus and the manner in which it interacts with the environment
Principle 2: Susceptibility to a teratogenic agent varies with the developmental
stage at which the exposure occurs
Principle 3: Teratogenic agents act in specific ways (mechanisms) on developing
cells and tissues to initiate abnormal embryogenesis (pathogenesis)
Principle 4: The final manifestations of abnormal development are death,
malformation, growth retardation, and functional disorder
Principle 5: Access of an adverse environmental agent to developing tissues
depends on the nature of the agent (influences)
Principle 6: The manifestations of deviant development increase in degree as
dosage increases from the no-effect to the lethal level
TERATOGENESIS
MUTAGENESIS
Definition: Mutagenesis is the process by which an organism's deoxyribonucleic
acids (DNA) change, resulting in a gene mutation. A mutation is a permanent and
heritable change in genetic material, which can result in altered protein function
and phenotypic changes.
A mutagen is an agent that can alter the DNA or chromosomes.
1. While teratogens act only during embryonic or fetal development, mutagens
may act at any time of life. Thus, mutations may occur in the gamete, zygote,
embryo, fetus, child, or adult.
2. Teratogens affect the development of a tissue, organ, or structure. In contrast, a
mutation always affects a single cell.
a) If this single cell is a germ cell, the mutation may be transmitted to subsequent
generations.
b) If a single cell in a very early embryo sustains a mutation, many tissues of the
embryo (including the germ cells) may be affected as embryogenesis progresses.
c) If a single cell in an embryo, fetus, child, or adult sustains a mutation; only cells
derived from the mutated cell will carry the mutation. Most cells in the individual
will not contain the mutation.
Applications:
rDNA technology.
Genetical modification of organisms and plants.
Recent researches:
1.an article from European journal of medical genetics in June 2021 after revising
in January 2021 development of research in the field of craniosynostosis from
a bibliometric standpoint. Craniosynostosis is a malformation occurring during the
early development of the skull, when one or more of the sutures close too early,
causing problems with normal brain and skull growth. Research in this field has
developed from early clinical case descriptions, to genetic discoveries responsible
for the occurring malformations and onwards to developing sophisticated surgical
treatment.
By
T. Elarjani, O.T. Almutairi, M. Alhussinan, A. Alturkistani, F.S. Alotaibi, M. Bafa
quh, et al.
Conclusion:
A teratogen is any plant, food, nutritional state, or physical agent that can
compromise normal fetal development and result in the production of a congenital
mal-formation. Teratogenesis, in its simplest terms, is the destruction of a critical
number of cells in excess of which the fetus is able to restore by later proliferation.
In considering the effects of drugs on pregnancy, it is important to remember the 6
principles of teratology: genetic susceptibility, development stage, mechanisms,
end points, access, and dose response. Keeping these principles in mind will
facilitate critical review of the literature that is relevant to pregnancy management.