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Lecture 5 Sex Chromosome

This document discusses sex chromosomes and their role in determining sex in various species, including humans and fruit flies. It explains sex-linked inheritance, providing examples such as hemophilia and colorblindness, and describes conditions like Swyer syndrome and androgen insensitivity syndrome. Additionally, it covers the inheritance patterns of sex-linked genes and the implications for predicting offspring phenotypes.

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9 views19 pages

Lecture 5 Sex Chromosome

This document discusses sex chromosomes and their role in determining sex in various species, including humans and fruit flies. It explains sex-linked inheritance, providing examples such as hemophilia and colorblindness, and describes conditions like Swyer syndrome and androgen insensitivity syndrome. Additionally, it covers the inheritance patterns of sex-linked genes and the implications for predicting offspring phenotypes.

Uploaded by

Ksso 02
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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BIOL1110

From Molecules to Cells


Module 3 – Gene and inheritance

Lecture 5 Sex chromosomes

Dr. Gary YW CHAN, School of Biological Sciences


KBSB 6N-11
gywchan@hku.hku
Sex chromosomes

1. How is sex determined


in human and other
animals?
Autosomal chromosomes
2. What are the key
features of sex
chromosomes (X and
Y)?

3. What is sex-linked
inheritance?

4. Examples of sex-linked
inheritance.
sex
chromoso
2005-2006
Chromosomes determine sex in many species

 X-Y system in mammals


• XX = female; XY = male
 X-O system in grasshoppers and roaches
• XX = female; XO = male
 Z-W in system in birds, butterflies, and some fishes
• ZW = female, ZZ = male
 Chromosome number in ants and bees
• Diploid = female; haploid = male
Sex determination in Drosophila (fruit flies)

• Y does not determine sex but essential for fertility


• Sex is determined by the ratio of X chromosomes to autosomes (A)
• Normal female 2X and 2A 1:1 (X:A)
• Normal male XY and 2A 1:2 (X:A)
Question time!

Can you tell whether the human beings or fruit


flies are male or female?
Genes on sex chromosomes
• Y chromosome
– SRY: sex-determining gene
• master regulator for maleness
• turns on genes for production of
male hormones
• X chromosome
– other traits beyond sex determination
• hemophilia
• Duchenne muscular dystrophy (DMD)
• color-blind
XY female?
Swyer syndrome (1 in 80,000 people): individuals have one X chromosome
and one Y chromosome in each cell (46,XY karyotype), which is the pattern
typically found in boys and men; however, they have female reproductive
structure.
1. People with Swyer syndrome have female external genitalia and some
female internal reproductive structures.
2. These individuals usually have a uterus and fallopian tubes, but their
gonads (ovaries or testes) are not functional.
3. These individuals do not produce eggs, but if they have a uterus, they
may be able to become pregnant with a donated egg or embryo.
4. Rare cases of fertility in Swyer syndrome woman were reported.
5. Genes in Y chromosome (e.g. SRY gene) or other autosomes that play
important role in determining sex characteristics or body development
were mutated.

https://medlineplus.gov/genetics/condition/swyer-syndrome
Androgen insensitivity syndrome
• People with this condition (~1 in 50,000) has one X and Y chromosomes,
which is typical for male. But their body’s cells and tissues are unable to
respond to male sex hormones (called androgens) that are important for
normal male sexual development before birth and during puberty.
• Affected individuals may have external sex characteristics that are typical
for females or have features of both male and female sexual development.
• There are three forms of androgen insensitivity syndrome: complete,
partial, and mild.
• People with the complete condition have external sex characteristics that
are typical of females. Affected individuals do not have a uterus. They
have male internal sex organs (testes) that are undescended, which means
they are not outside the body.

https://medlineplus.gov/genetics/condition/androgen-insensitivity-
Sex-linked genes

 Sex-linked genes are located on either of the sex


chromosomes
• X-linked genes are passed from mother to son and mother
to daughter
• X-linked genes are passed from father to daughter
• Y-linked genes are passed from father to son
Sex linked genes

• XA = Locus on X chromosome
• XX females
– XA XA, XaXa - homozygotes
– XA Xa – heterozygote (carrier)
• XY male
– XA Y, XaY
– no carriers in males, therefore they are more susceptible
to x-linked recessive traits.
– X-linked dominant traits do not necessarily affect males
more than females
Sex-linked disorders affect mostly males

• X-linked
• follow the X chromosomes
• males get their X from their mother
• trait is never passed from father to son
 Males express X-linked disorders such as the following when recessive
alleles are present in one copy
• Hemophilia
• Colorblindness
• Duchenne muscular dystrophy
Hemophilia is a sex-linked recessive trait defined by the absence of one or more clotting
factors.
These proteins normally slow and then stop bleeding.
Individuals with hemophilia have prolonged bleeding because a firm clot forms slowly.
• Only male
descendants had
the disease (XhY)

• Queen Victoria
was a carrier
(XHXh)

• Intergenerational
inheritance could
be seen when the
mother is carrier

By [[Useravablack.hrek]] - Own work, CC BY-SA 4.0,


https://commons.wikimedia.org/w/index.php?curid=56077952
Questions:

Colorblindness is due to the X-linked recessive allele b, while the X-linked dominant allele
B leads to full color vision. Predict the ratio of offspring phenotypes for each of the
following:

Colorblind female x male with full color vision


XbXb  XBY  = 0% females with full color vision + 100% colorblind males

Female homozygous for full color vision  colorblind male


XBXB  XbY  = 0% colorblind females + 0% colorblind males

Female heterozygous for colorblindness  normal male


XBXb  XBY  0% colorblind females + 50% colorblind males
Hemophilia

• Sex-linked recessive gene. Males will have this disorder if


they inherit the gene from only one parent (the mother).
Females would have to receive this gene from both parents.
• XH Xh x X H Y XH Xh
XH X HX H X HX h
Y X HY XhY

• Neither parent has hemophilia, but the mother is a carrier


(heterozygous).
• With a carrier mother and a normal father, the daughters
have a 50% chance of being a carrier but will NOT have
hemophilia. The sons have a 50% chance of having
hemophilia.
Unique pattern of inheritance of X-linked recessive

• X-linked alleles have a different pattern of


inheritance than autosomal alleles.
– The Y chromosome cannot offset the inheritance
of an X-linked recessive allele.
• Affected males always receive their X-linked
recessive mutant allele from the female
parent.
Pedigree Analysis

Pedigree: a family tree describing the interrelationships of


parents & children across generations

- trace & describe inheritance patterns of certain traits


-can make predictions about future offspring

- use the multiplication & addition rules to predict the


probability of specific phenotypes
Mode of Inheritance

• Sex-linked recessive
alleles[ e.g., hemophilia,
Muscular Dystrophy ]
– More males affected than
females
– An affected son can have
parents who have the normal
phenotype
– For a female to have the
characteristic, her father must
also have it and the mother
must be either has it or a
carrier.
– If a woman has the Q: Who must be carriers?
characteristic all her sons will
have it
Question time (T/F)
1. X-linked inheritance belongs to non-Mendelian inheritance.

2. For an X-linked recessive disease when a mother has the


disease, all her children will have the disease.

3. For an X-linked recessive disease, when a father has the


disease, all his daughters must either be diseased or carriers.

4. For an X-linked dominant disease, when a father has the


disease, all his daughters will have the disease.

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