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Genetics: Genotype, Phenotype, and Disorders

The document provides an overview of genetics, detailing concepts such as genotype, phenotype, types of gene mutations, and inheritance patterns. It categorizes chromosomal and gene disorders, explaining autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant disorders with examples. Additionally, it lists specific disorders associated with each inheritance type using mnemonic devices for easier recall.

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18 views5 pages

Genetics: Genotype, Phenotype, and Disorders

The document provides an overview of genetics, detailing concepts such as genotype, phenotype, types of gene mutations, and inheritance patterns. It categorizes chromosomal and gene disorders, explaining autosomal recessive, autosomal dominant, X-linked recessive, and X-linked dominant disorders with examples. Additionally, it lists specific disorders associated with each inheritance type using mnemonic devices for easier recall.

Uploaded by

madara ë
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

388

Genetics
Genotype:
 It is the genetic make-up of an individual.
If an individual has two identical alleles of a certain gene. The individual is homozygous for the
related characters.
If an individual has two different alleles of a certain gene. The individual is heterozygous for the
related characters.
Phenotype:
 It is the expression of the genotype.
Thus, genotype determine phenotype.
The steps of analysis:
Chromosomal: numerical
DNA: somatic
Genome: structural
Array: chromosomal map
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Types of gene mutation:


 Deletion
 Insertion
 Inversion
 Duplication
 Translocation
 Iso-chromosome
Types of inheritance
 Recessive
 Dominant
 Sporadic
 X-linked
 Mitochondrial
Chromosomal disorders:
Trisomy 13, 18& 21 - XO,, XX& XYY
Gene disorders:
Treacher Collins$, prader willi $, bradet moon $,
Russel silver $, Carpenter $, angelman $, goldenhar $, cornelia de lange $,
390

Autosomal recessive disorders:


Horizontal patterns in pedigrees, multiple affected
individuals affected in the generation. Moreover, no
affected generation in the other generation.
Males& females are equally affected.
Manifestations are only in the homozygous state.

Autosomal dominant disorders:


Vertical pattern of individuals in each generation in the
pedigree is affected.
Males & females are equally affected
Affected individuals has chance 50% passing on the
deletious gene to the offspring.

X-linked recessive disorders:


Males affected more commonly.
Female carriers are not affected.
Affected fathers will have all daughter carriers and
unaffected sons
Female carriers have 25 % risk for having affected son, 25 %
risk for a carrier daughter and 50 % having normal children.

X-linked dominant disorders:


Females are affected twice as often males.
Affected female has 50 % probability of transmitting the
disease to her son or daughter
Affected male transmit the disease to all his daughters but
none to his sons
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Autosomal dominant disorders: HEAVY DOMINANT


H: Hereditary spherocytosis
E: Ehler Danlos syndrome
A: Achondroplasia
V: Von Willebrand disease
Y: hYpoparathuroidism
D: Dystrphica myotonica
O: Osteogenesis imperfect
M: Marfan syndrome
I: Intermittent porphyria
N: Neurofibromatosis
A: Adult polycystic kidney disease
N: Noonan syndrome
T: Tuberous sclerosis

Autosomal recessive disorders: ABCDEFGHI


A: Alkaptenria, Albinism
B: B-thalassemia, sickle cell anemia
C: Cystic fibrosis
D: Deafness (sensorineural)
E: Emphyysema (Panacinar alfa1 ATD)
F: Friedrick’s ataxia
G: Gaucher’s disease
H: Hurler’s disease, Hemochromatosis
I: Inborn error of metabolism
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X-linked dominant disorders: ART


A: Alport syndrome
R: Rickets
R: Rett’s syndrome
T: Type X Charcot Marie Tooth

X-linked recessive disorders: GRAHAM BELL


G: G6PD deficiency
R: Retinitis pigmentosa
A: Albinism
H: Hemophilia
A: Adrenoleukodystrophy
M: Menkes disease
B: Blindness (Color)
E: Ehler Danlos V & IX
L: Lesh Nyhan syndrome
L: Lowe disease

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