Anthony Triplin Steve Jean Jude Saint-Jean February 1, 2010 Period:3

Hemophilia  Blood does not clot as quickly  Most common in males  Also known as Christmas disease  Double vision, repeated vomiting, extreme fatigue  Only males get type A and B  Females get type C  Type C less common

Location of Hemophilia  Located on X chromosome

of Mode of Inheritance  Hemophilia is sex linked/ x-linked  Can only be passed down on X chromosome  Hemophilia A ( 1 in 10,000 male births, 1 in 100,000,000 female births)

Alleles  Two alleles for each gene  Half from your mom and half from your dad  A capital letter for dominant allele and a lower-case letter for the recessive allele  Dominant allele takes over a recessive allele  Recessive produces only when its paired allele is identical  A X-linked dominant chromosome is represented as X H  A X-linked recessive chromosome is represented as X h

Hemophilia Hemophilia Punnett Squares XHXH Y XHXH XhXh XHXHXHXH XHYXHY XHXhXHXh XhYXhY Punnett squares are used to show the probability of receiving a genetic disorder from a parent. YXhXh XHXH XHXH XHXhXHXh XHYXHY XHXhXHXh XHYXHY XhXh Y XHXH XhXh XHXhXHXh XHYXHY XhXhXhXh XhYXhY Male w/ hemophilia and female non-carrierMale w/ hemophilia and female carrier Homozygous Dominant Heterozygous Dominant Homozygous Recessive Normal Male and female carrier

Punnett Square Probability Ratios: 1 : 1 :1: 1 1 X H X H : 1 X H X h :1 X H Y : 1 X h Y Percentages: 25% : 25% : 25% : 25% 25%X H X H : 25% X H X h : 25% X H Y : 25%X h Y Normal Male and female carrier XHXH Y XHXH XhXh XHXHXHXH XHYXHY XHXhXHXh XhYXhY

Punnett Squares Genotypes and Phenotypes What do the letters mean ? Uppercase letters represent dominant genes Lowercase letters represent recessive genes H is the dominant allele h is are the recessive allele Phenotype/What We See X H X H = Non Carrier X H X h = Carrier X H Y= Normal X h Y= Hemophilia Genotype/What Is In Our Genes X H X H is the Homozygous dominant X H X h is the Heterozygous dominant X h Y is the Homozygous recessive Normal Male and female carrier XHXH Y XHXH XhXh XHXHXHXH XHYXHY XHXhXHXh XhYXhY

Genotype/Phenotype Genotype/Phenotype Probability Phenotype= The observable characteristic of an organism (Expression of genes) -Ratios- 1 X H X H: 1 X H X h: 1 X H Y : 1 X h Y - Percentages- 25% With Hemophilia 75% Without Hemophilia Genotype- The specific Allele makeup of an organism - Ratios- 1 X H X H: 1 X H X h: 1 X H Y : 1 X h Y - Percentages- 25% X H X H: 25% X H X h: 25% X H Y : 25% X h Y Punnett square of a Normal Male and a Carrier Female XHXH Y XHXH XhXh XHXHXHXH XHYXHY XHXhXHXh XhYXhY

Student try Student Practice Now you try! Genotype: Ratio: 2 X H X h : 2 X H Y Percentage: 50% Hemophilia Carrier 50% Normal Phenotype: Ratio: 2 X H X h : 2 X H Y Percentage: 50% HY 50% hY XH XH X h XHXhXHXh XHXhXHXh XHYXHY For example: Eye color Y XH XH XHYXHY

White= Person is fine. May of two “healthy genes.” Black= Person is affected. Has 2 “bad” genes. How to read: Circle= Female Square= Male Shaded Circle= Female Hemophilia Carrier Shaded Square= Male hemophiliac

Practice read Student Practice: How to read an X- Linked Pedigree Chart. Key: Square= Male Circle= Female Red Square= Male hemophiliac Yellow Circle= Female carrier Joe Jan Marc Cindy Dan Tom Jr. Lisa You think you know X- linked Pedigree’s? If so: 1.Who is the main source of the hemophilia in this family? 2.How many people in this chart DO NOT have any form of hemophilia? 3.If Marc were to have children with a normal female, what are the odds of one of them having some form of hemophilia? Tom Kayla