Patterns of Inheritance

by: Katrina Issa A. Gelaga, RN, MN

 Why do some people inherit patterns that will display dangerous disease symptoms, such as those seen in cystic fibrosis?

Cystic Fibrosis
also known as mucoviscidosis is an autosomal recessive genetic disorder that affects most critically the lungs, and also thepancreas, liver, and intestine. CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR).
This protein is required to regulate the components of sweat, digestive fluids, and mucus

CF is most common among Caucasians; 4% of people of European descent carries one allele for CF

 The cornerstones of management are proactive treatment of airway infection, and encouragement of good nutrition and an active lifestyle. Pulmonary rehabilitation Intravenous, inhaled, and oral antibiotics transplantation and gene therapy

Chronic Granulomatous Diseases Mucopolysaccaridosis Diseases Phenlketonuria Turner's Syndrome Celiac Disease

Genetically Inherited Traits

1. Achoo Syndrome 2. Chin Cleft 3. Early Onset Myopia (Childhood Nearsightedness) 4. Bent Little Finger 5. Facial Dimples 6. Eye Color 7. Free Earlobe 8. Hand Clasping 9. Tongue Rolling

Chin Cleft

Bent Little Finger:

Eye Color

Free Earlobe

Hand Clasping

Tongue Rolling

Universal Principles of Heredity

Blending model of heredity
Before Mendels discovery, people believed that heredity was a blend of characteristics from mother and father

Particulate model of heredity

Mendel disproved the blending theory

Reason he use Pea Plants

has variety of strains that showed clear alternative forms of single traits he can study inheritance of one feature unconfused by all other variations Can be control (self-fertilizes)

 In Mendels pea plant experiments, the parental (P1) generation was pure-bred and self-fertilized (mated with itself)
In Cross-fertilization (deliberate crosses between two organisms) the parents resulted in the first filial (F1) generation

The trait showing up in F1 generation was dominant The trait that did not show up was recessive

 The F1 generation was allowed to self-fertilize The Filial (F2) generation resulted in a mix of traits with the dominant trait showing up more often than the recessive trait

Mendels Experiment
Mendel began one of his first experiments by cross-fertilizing long-stemmed and shortstemmed pea plants. An individual pea plant generally has two alleles for each gene, with one allele on each member of a homologous pair of chromosomes. The two alleles for the gene for stem length are a longstem allele, abbreviated as upper case L, and a short-stem allele, abbreviated as lowercase l.

 The collection of alleles in an organism is its genotype.

Particulate Model of Heredity

Parents

P1
Long Short

Mendel crossed longand short-stem pea plants

F1

He got all long-stemmed progeny in the F1 generation

All long

Particulate Model of Heredity

Self-fertilization

F2

Long

Long

Long

Short

(a) Parents

Long

Short

(b) F1

All long Self-fertilization (c) F2

Stepped Art

Long

Long

Long

Short

Fig. 5-1, p. 87

Rules Governing Inheritance of a Single Trait

Genes and alleles:

Gene - influences a specific trait in an organism Alleles - alternate forms of a gene

Rules Governing Inheritance of a Single Trait

Genes and alleles of the pea plant: Gene: length of pea stem Allele: The gene for the pea plant has 2 alleles: one for short stems and one for long stems

Genes, Alleles, and Chromosomes

Purple flower allele While flower allele

Long-stem allele Short-stem allele

Stem length gene

Flower color gene

Rules Governing Inheritance of a Single Trait

Mendels Principle of Segregation: Part 1 - Segregation of Alleles: Pea Plants

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Rules Governing Inheritance of a Single Trait

1. A heredity trait is governed by a gene 2. Genes reside on chromosomes 3. A gene for each trait can exist in two or more alternative forms called alleles

Rules Governing Inheritance of a Single Trait

4. Most higher organisms have two copies of each gene in body cells (diploid), but gametes (egg & sperm) have only

one copy of each gene (haploid)

Rules Governing Inheritance of a Single Trait

5. Two chromosomes similar in size, shape, and genetic content are called homologous

6. A homozygote has two identical alleles of a gene

A heterozygote has two different alleles of a gene

Rules Governing Inheritance of a Single Trait

7. A phenotype is the physical appearance of an organism whereas a genotype is the genetic makeup of an organism

Rules Governing Inheritance of a Single Trait

(a) Homozygous dominant (two matching dominant alleles) (b) Heterozygous (c) Homozygous recessive (nonmatching alleles) (two matching recessive alleles)

Phenotype:

Long Long-stem allele

Long

Short Short-stem allele

Long-stem allele

Long-stem Short-stem Short-stem allele allele allele

A pair of homologous chromosomes

Genotype:

LL

Ll

ll

(a) Homozygous dominant (two matching dominant alleles)

(b) Heterozygous (nonmatching alleles)

(c) Homozygous recessive (two matching recessive alleles)

Phenotype: Long-stem allele

Long Long-stem allele

Long Long-stem Short-stem allele allele

Short Short-stem allele Short-stem allele

A pair of homologous chromosomes

Stepped Art

Genotype:

LL

Ll

ll

Fig. 5-3, p. 90

Rules Governing Inheritance of a Single Trait

8. The dominant allele shows the phenotype and the recessive allele is hidden

Rules Governing Inheritance of a Single Trait

9. Pairs of alleles separate before egg and sperm formation (meiosis)

Fertilization brings a single gene from each parent so that the progeny have two genes

Rules Governing Inheritance of a Single Trait

10.Genes on different chromosomes assort independently of each other into gametes 11.Linked genes lie on the same chromosome and tend to be packaged into gametes together