L29 PDF

Human Gene)cs
Dr Joanna Ho
Email: joannaho@hku.hk
BMSN2202_For 2015-16_J HO
Learning Outcomes
Describe the Mendels laws of inheritance.

List and describe the types and properMes of inheritance in humans.
The Father of Gene)cs
Some traits of the sweat pea can only occur in one or the
other form but no intermediate. For example:
colour of owers either white or purple
Colour of peas either round or wrinkled
Gregor Mendel
1822-1884
Conclusions from Mendels experiments
AlternaMve versions of genes account for variaMons in

inherited characters (alleles)
For each character trait (e.g. colour, height, etc in case of
peas): the organism inherits 2 genes, one from each parents.
If 2 genes diers
The dominant allele is fully expressed in the organisms appearance
The other has no noMceable eect on the organisms appearance
The 2 genes for each character segregate during gamete
producMon
***
inherited as recessive
D(dad) d(mum)
D DD Dd
d Dd dd (recessive)
Types of inheritance
1. Autosomal dominant
2. Autosomal recessive
3. X-linked dominant
Inheritance of x-linked dominant genes (on X-
chromosome)
4. X-linked recessive
5. Co-dominance
The alleles are equally strong
Autosome refers to chromosome 1-22

Chromosome 23 = X or Y = sex chromosome
Autosomal dominant
Inheritance of autosomal dominant genes
One allele is enough for the expression of a parMcular phenotype.
e.g.
Ear-lobe,
HunMngtons disease
Von Willebrand disease
Autosomal recessive
Two alleles are required for the expression of a parMcular phenotype.

e.g.
Albinism pale skin
CysMc brosis
Proper)es of autosomal recessive inheritance
Recessive = need to have 2 recessive alleles to exhibit a parMcular

phenotype
1. Parents are unaected (they are carriers of the recessive genes)
2. An aected individual will have approx. 25%

of siblings being aected
i.e. chance of having another aected child is 25%
3. Oien resulted from consanguineous maMng (between close

relaMves)
The number of recessive allele (esp. disease) in the whole gene pool is rare
4. All children of 2 aected parents are aected

If A = dominant allele (dark skin colour);
a = recessive allele (no colouraMon)

Father
A Aa
Mother
A AA Aa
a Aa aa
25% homozygous dominant

(AA)
50% carrier (Aa)
} Normal dark skin
25% homozygous recessive (aa) albino
Pedigree of autosomal recessive disease
Aa Aa Aa
Aa Aa Aa Aa
Consanguineous maMng
Proper)es of X-linked dominant inheritance
X-linked means the allele is on chromosome X
1. Trait is never passed from father to son
2. If an aected male mates with a normal female

All daughters are aected
All sons are normal
3. If an aected female mates with a normal male

50% children are aected (no sex dierence)
If XA = dominant x-linked allele
X = normal

2 Father Father
XA Y X Y
Mother
Mother
X XXA XY X XX XY
daughter son
X XXA XY XA XXA XAY
All females are aected 50% females are aected

Osprings not
All males are aected 50% males are aected
A pedigree of X-linked dominant inheritance
Proper)es of X-linked recessive inheritance
Common examples:
G6PD deciency
Red-green colour blindness
Rare examples:
Haemophilia
Duchenne muscular dystrophy
1. Males are more likely aected
2. Trait never pass from father to son.
3. Trait can pass from an aected grandfather to half of his grandsons

through his carrier daughters, i.e. it skips a generaMon.
If XA = dominant x-linked allele
X = normal
Aected grandfather Normal Father
XA Y X Y
Carrier Mother
Grandmather
X XXA XY X XX XY
X XXA XY XA XXA XAY
All females are carriers 50% aected grandsons

Osprings
All males are unaected 50% carrier granddaughters
A pedigree of X-linked recessive inheritance
Co-dominance
Equally strong alleles and the characterisMcs dened each allele are shown
equally
3 alleles control ABO blood grouping
A: an enzyme that make anMgen A (dominant)
B: an enzyme that make antogen B (dominant)
O: an non-funcMonal enzyme no anMgen (recessive)
Co-dominance
Blood group An9gen(s) on Genotype

(phenotype) RBC (combina9on of alleles)
A A AA, AO
if blood gp A, dont know allele is AA or AO
B B BB, BO
AB A and B AB
O None OO
Vocabulary
Gamete Chromosome
Zygote Consanguineous maMng
Allele Pedigree chart
Loci Autosomal dominant
Phenotype Autosomal recessive
Genotype X-linked dominant
Homozygote X-linked recessive
Heterozygote Co-dominance
Hybrid
Dominant
Recessive
Mendelian inheritance
Suggested reading
Martini, F. H., Nath, J. L., & Bartholomew, E.F. (2012).

Fundamentals of anatomy and physiology. (9th Ed.). San
Francisco : Pearson/Benjamin Cummings (Chapter 29-,
p1102-1108)
http://anthro.palomar.edu/mendel/mendel_1.htm
http://www.uic.edu/classes/bms/bms655/lesson9.html
hmp://www.genome.gov/Glossary/index.cfm?id=1
B: maternal grandfather

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Human Gene)cs

Describe the Mendels laws of inheritance.

AlternaMve versions of genes account for variaMons in

Autosome refers to chromosome 1-22

Two alleles are required for the expression of a parMcular phenotype.

Recessive = need to have 2 recessive alleles to exhibit a parMcular

1. Parents are unaected (they are carriers of the recessive genes)

2. An aected individual will have approx. 25%

3. Oien resulted from consanguineous maMng (between close

4. All children of 2 aected parents are aected

25% homozygous dominant

25% homozygous recessive (aa) albino

X-linked means the allele is on chromosome X

1. Trait is never passed from father to son

2. If an aected male mates with a normal female

3. If an aected female mates with a normal male

All females are aected 50% females are aected

1. Males are more likely aected

2. Trait never pass from father to son.

3. Trait can pass from an aected grandfather to half of his grandsons

Aected grandfather Normal Father

X XXA XY XA XXA XAY

All females are carriers 50% aected grandsons

Blood group An9gen(s) on Genotype

Martini, F. H., Nath, J. L., & Bartholomew, E.F. (2012).

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