11/9/2022

UNIVERSITY OF SOUTHERN MINDANAO

Gen 211a Module 11

PRINCIPLES OF GENETICS HUMAN GENETICS

Gwen Iris D. Empleo, PhD

CA-PBG Faculty

Human disorders caused by mutations Autosomal chromosome abnormalities

in chromosome number
Disorder Genetic cause Major symptoms Incidence
Patau’s Extra copy of Heart defects, brain or spinal 1/16,000
syndrome chromosome 13 cord abnormalities, very
small or poorly developed
eyes, extra fingers or toes,
an opening in the lip
Edward’s Extra copy of Heart defects and 1/5,000
syndrome chromosome 18 abnormalities of other
organs that develop before
birth
Down Extra copy of Slow development, may
syndrome chromosome 21 have heart and stomach
illnesses and vary greatly in Patau’s syndrome
their degree of intelligence

Autosomal chromosome abnormalities Autosomal chromosome abnormalities

Edward’s syndrome Down syndrome

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Human disorders caused by mutations

Sex Chromosome Abnormalities
in chromosome number
Disorder Genetic cause Major symptoms Incidence
Klinefelter’s Extra copy or Sterility, small testicles,
Syndrome copies of breast enlargement
chromosome X in
males (e.g. XXY)
XYY Extra copy of Y Often tall and thin,
Syndrome chromosome associated with antisocial
and behavioral problems
Turner’s Reduction in the Sex organs do not develop
Syndrome copy of at adolescence, sterility,
chromosome X in short stature
females (i.e. XO)
Klinefelter’s Syndrome

Sex Chromosome Abnormalities Sex Chromosome Abnormalities

Physical features in boys with XYY. A) Hypertelorism, B) Big teeth, C) Pes

planus (decreased tone),D) Central adiposity, E) Clinodactyly.

XYY Syndrome Turner’s Syndrome

The Single Active X Principle The Single Active X Principle

• XX-YY system – chromatin body or Barr Body is observed • This explains the viability of such types as XXX or XXXY in
in the interphase nucleus of the XX females (humans, mice spite of gross imbalance for the X chromosome
and cats)
• Number of Barr Body – one less than the number of X-
chromosomes, which explains why Barr Body is not
observed in the male cells
• Mary Lyon (1962) – proposed that the Barr Body was an
inactive X chromosome and that any person, regardless of
the number of X chromosomes, had only one active X
chromosome
• This explains the viability of such types as XXX or XXXY in
spite of gross imbalance for the X chromosome

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Human disorders caused by mutations Autosomal chromosome abnormalities

in chromosome structure
Disorder Genetic cause Major symptoms Incidence
DiGeorge Deletion of a small Congenital heart problems, 1/4,000
syndrome portion of specific facial features,
chromosome 22 frequent
infections, developmental
delay, learning
problems and cleft palate
Angelman 70% of cases due Delayed development, 1/ 20,000
syndrome to a deletion of a intellectual disability, severe
portion of the speech impairment, and
chromosome 15 problems with movement and
carrying the UBE3A balance
gene
DiGeorge Syndrome

Autosomal chromosome abnormalities Human disorders caused by mutations

in chromosome structure
Disorder Genetic cause Major symptoms Incidence
Cri du chat Deletion of a small Mentally retarded and 1/50,000
syndrome portion of chromosome has catlike cry
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Prader-Willi 75% of cases due to a Poor muscle tone 1/30,000
syndrome deletion of the a portion during infancy to
of the father’s behavioral problems in
chromosome 15 early childhood
Chronic Translocation between Leukemia
myelogenous chromosomes 9 and 22
leukemia (Philadelphia
chromosome)
Angelman Syndrome

Autosomal chromosome abnormalities Autosomal chromosome abnormalities

Cri du chat Syndrome Prader-Willi Syndrome

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Autosomal chromosome abnormalities Human disorders caused by mutations in

autosomal genes (chromosomes 1-22)
Disorder Major Symptoms Incidence
Autosomal dominant disorders
Achondroplasia Dwarfism; Mutation in the FGFR3 gene on 1/25,000
chromosome 4
Alzheimer’s Mental deterioration; usually strikes late in life; Not known
Disease Three single-gene mutations in Amyloid
precursor protein (APP) on chromosome 21,
Presenilin 1 (PSEN1) on chromosome 14,
Presenilin 2 (PSEN2) on chromosome 1.
Huntington’s Progressive degeneration of neurons in 1/10,000 in
Disease the brain; usually strikes late in life; US
Mutations in the HTT gene on chromosome 4

Chronic myelogenous leukemia

Autosomal gene mutations Autosomal gene mutations

Achondroplasia Early onset Alzheimer disease

Autosomal gene mutations Human disorders caused by mutations in

autosomal genes (chromosomes 1-22)
Disorder Major Symptoms Incidence
Autosomal recessive disorders
Albinism Lack of pigment in skin, hair and eyes 1/22,000
Cystic fibrosis Mutation in CFTR gene on chr 7q; 1/1,400
Excess mucus in lungs, digestive tract,
liver, increased susceptibility to infections;
death in infancy unless treated

Huntington’s Disease

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Autosomal gene mutations Autosomal gene mutations

Albinism Cystic fibrosis

Human disorders caused by mutations in Human disorders caused by mutations in the

autosomal genes (chromosomes 1-22) genes located on the sex chromosomes

Disorder Major Symptoms Incidence Disorder Major Symptoms Incidence

Autosomal recessive disorders X-linked dominant disorders
Galactosemia Accumulation of galactose in tissues; 1/100,000 X-linked Rickets that vitamin D 1/20,000
mental retardation; eye and liver damage hypophosphatemia supplementation does not cure
Phenylketonuria Accumulation of phenylalanine in blood, 1/10,000 in Fragile X syndrome Mild to moderate intellectual 1.4/10,000 males
(PKU) lack of normal skin pigment, mental US and disability 0.9/10,000
retardation Europe females
Sickle-cell disease Sickle red blood cells 1/600 African X-linked recessive disorders
(homozygous) American Hemophilia Uncontrolled, often spontaneous 1/5,000 males
bleeding in different areas of the
Tay-Sachs disease Lipid accumulation in brain cells, mental 1/3,500 Jews
deficiency, blindness, death in childhood from Central body
Europe

Human disorders caused by mutations in the Color Blindness

genes located on the sex chromosomes

Disorder Major Symptoms Incidence

X-linked recessive disorders
Duchenne muscular Severe muscle weakness 6/100,000 in In
dystrophy Europe and North
America
Red-green Cannot distinguish between red
Colorblindness and green colors
Y-linked disorders
Azoospermia Semen contains no mature sperm 1/3,000 males

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Genetic traits in humans can be tracked Family pedigrees are used to determine
through family pedigrees patterns of inheritance and individual
genotypes

• The inheritance of Dd
Joshua
Dd
Abigail
D_?
John
D_?
Hepzibah
Lambert Linnell Eddy Daggett
many human traits
follows Mendel’s
principles and the D_? dd Dd
Abigail Jonathan Elizabeth
rules of probability Lambert Lambert Eddy

Dd Dd dd Dd Dd Dd dd

Female Male
Deaf
Hearing

Common patterns of inheritance Common patterns of inheritance

in humans
1. Autosomal dominant. The trait due to an autosomal
dominant gene never skips a generation. The affected
individual may either be homozygous dominant or
heterozygous.
in humans
2. Autosomal recessive. Marriage between affected individuals
produces offspring who are also affected by the trait. Affected
progenies may also result from mating between unaffected
parents if they are heterozygous for the gene pair.

Common patterns of inheritance

Sex Linkage in humans
• Sex chromosome carry genes for characters and 3. X-linked dominant. Pedigrees show affected males with
therefore the inheritance of certain unaffected wives transmitted that trait to daughters only.
characteristics is sex linked or associated with Affected heterozygous females with unaffected husbands can
that of sex transmit the traits to both sons and daughters.
• Female has two X-chromosome (homozygous or
heterozygous for an X-linked genes)
• Male has only one X-chromosome is said to be
hemizygous

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Common patterns of inheritance A high incidence of hemophilia has

in humans plagued the royal families of
4. X-linked recessive. Pedigrees show unaffected carrier
Europe…because of inbreeding
females with unaffected husbands transmit the trait to sons
only although the daughters are carriers of the gene

Queen Albert
Victoria

Alice Louis

Alexandra Czar
Nicholas II
of Russia

Alexis

Common patterns of inheritance

in humans Sex Linkage

5. Y-linked. Pedigrees show affected males transmit the

Y-linked inheritance
• e.g. Hypertrichosis of the ears
traits to sons. Y-linked inheritance is also called holandric
 Conspicuous growth of hair on the outer rim of
inheritance.
the ear
 Transmitted only from father to son

Fetal testing can spot many inherited Chorionic villus sampling is a procedure
disorders early in pregnancy that obtains fetal cells for karyotyping

• Karyotyping and biochemical tests of fetal cells

and molecules can help people make decisions
about having babies Fetus Several hours
• Fetal cells can be obtained through amniocentesis (10-12
weeks)
later

Placenta
Suction Fetal cells Karyotyping
(from chorionic villi)
Amniotic Centrifugation
Amniotic fluid
fluid withdrawn Fluid
Some
Chorionic villi
Fetal biochemical
Fetus tests
cells
(14-20
weeks) Biochemical
tests
Placenta

Several
Uterus Cervix weeks later Karyotyping
Cell culture

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Karyotype of a normal male Karyotype of a male with _________.

Examination of the fetus with ultrasound is

another helpful technique