Download Loci and the Human Karyotype

Loci and the Human
Karyotype
Biology
Unit 6
2014-2015
Chromosomes

Karyotype:
◦ ordered display of an individual’s
chromosomes.
◦ Collection of chromosomes from mitotic
cells.
◦ Staining can reveal visible band patterns, gross
anomalies.
Karyotyping
Meiosis KM
3
 Karyotypes
arrange
chromosomes
in order by size:
Largest to
smallest
Chromosomes
 Some large like
#1
 Some small like
#22
Homologous pairs
Same Length
 Centromere in
same location
 Same bands
(genes)

Centromere Position
 The
centromere is not
exactly in the center of the
chromosome
 “p” arm: (p=petite) the
shorter arm of the
chromosome
 “q” arm: the longer arm of
the chromosome
Locus (plural=loci)
 The
position that a given gene
occupies on a chromosome. (Its
like an address for your genes)
 Written like this: 15p23
Example: 15p23=Chrom 15 small arm, 23rd
band from the centromere
Trisomy:
*Having 3 chromosomes of each kind
instead of 2
*Normally trisomy results in death.
1 Example
Down Syndrome:
a genetic condition in which the individual
has 3 copies of the 21st chromosome.
 Genotype: 3 copies of 21st chromosome

Chrom
#
2
Gene
Description
Skin Color
Polygenic
Locus
2p18
Allele
S = Dark
s= Light
2q21
My
My
Geno. Pheno
Lt
Ssss Olive
SSSS= Dark
SSSs= Fairly Dark
S
s
s
s
SSss= Olive
Ssss = Light Olive
ssss = Lightest White
Chrom
#
4
Gene
Description
Acne
Polygenic
Incomplete
Dominance
Locus
4p20
Allele
A=Acne
a=No Acne
AA=Lots
Aa=some
aa= none
My
My
Geno. Pheno
Aa
A
Some
Acne
a
Chrom
#
4
Gene
Description
Cleft Chin
Regular
Dominance
Locus
4p19
Allele
N = Cleft
n= no cleft
My
My
Geno. Pheno
nn
n
No
Cleft
n
Chrom
#
7
Gene
Description
Eye color
Incomplete
Dominance
Locus
7p15
Allele
B=Brown
b=Blue
My
My
Geno. Pheno
Bb Light
Brown
BB=Brown
Bb=Light Brown,
Hazel, Green
bb=blue
B
b
Chrom
#
7
Gene
Description
Hair Color
Incomplete
Dominance
Locus
7p11
Allele
My
My
Geno. Pheno
H=Brown/Black
Hh
h=blonde
Light
Brown
HH=Brown/Black
Hh=Light Brown
hh=Blonde
H
h
Chrom
#
7
Gene
Description
Cystic Fibrosis
Autosomal
recessive
Locus
7q25
Allele
F = No CF
f = CF
My
My
Geno. Pheno
FF
F
No
CF
F
Chrom
#
7
Gene
Description
Acne
Polygenic
Incomplete
Dominance
Locus
Allele
My
My
Geno. Pheno
7q11
A= Acne
Some
acne
a = no Acne
Aa
A
a
Chrom
#
9
Gene
Description
Blood Type
A & B Codom.
O=Recessive
Locus
Allele
My
My
Geno. Pheno
IA=A
9q34
ii
IB=B
o
i=O
i
i
Chrom
#
9
Gene
Description
Rh Factor
Normal
Dominance
Locus
9q30
Allele
My
My
Geno. Pheno
R = +Rh
Rr
r = - Rh
R
Rh+
r
Chrom
#
12
Gene
Description
Freckles
Normal
Dominance
Locus
Allele
12p5
F = Freckles
My
My
Geno. Pheno
No
Freckles
ff
f= no freckles
f
f
Chrom
#
12
Gene
Description
Hair Type
Incomplete
Dominance
Locus
12q24
Allele
My
My
Geno. Pheno
CC= Curly
cc = Straight
cc
Straight
Cc=Wavy
C
C
Chrom
#
15
Gene
Description
Tay-Sachs
Autosomal
recessive
Locus
15q23
Allele
T = No TS
t = TS
My
My
Geno. Pheno
TT
T
No
TS
T
Chrom
#
16
Gene
Description
Dimples
Normal
Dominance
Locus
Allele
16p10
D=Dimples
My
My
Geno. Pheno
Dd
Dimples
d = No Dimples
D
d
Chrom
#
Gene
Description
Locus
Allele
B= Not Colorblind
23
Color Blind
XBY
b = Colorblind
A= No Hemophilia
Hemophilia
My
My
Geno. Pheno
XAY
a = Hemophilia
B
A