Tagum Doctors College Inc.

MENDELIAN
DISORDERS
Mary Stephanie P. Chong, RMT, MD

2023
Content

1
Gregor Mendel: Father of Genetics

2 Definition of Terms

Transmission Patterns of Single-

3
Gene Disorders
Objectives

To review the contribution of Gregor Mendel

To be able to identify the different Mendelian Disorders

To be able to understand the medical importance of such disorders

Gregor Mendel
"Father of Genetics"

tracked the segregation of parental genes and their

appearance in the offspring as dominant or recessive
traits.

Mendel's Laws of Heredity:

• Law of Segregation
• Law of Independent Assortment
• Law of Dominance
 Codominance
01 traits where both alleles of a gene pair contribute to
the phenotype

Pleiotropism
02 a single mutant gene may lead to many end
effects

Definition of 03
Autosomal
the gene in question is located on one of the
numbered, or non-sex chromosome

Terms X-linked
04 the gene in question is located on the sex
chromosome

a single copy of the disease-associated mutation is

Dominant enough to cause the disease
05
quality found in the relationship
Recessive between two versions of a gene
Transmission Biochemical & Disorders Disorders
Patterns of Molecular Basis Associated with Associated With
Single-Gene of Single-Gene Defects in Defects in
Disorder Disorders Structural Receptor
Protein Proteins
 Disorders
Disorders Associated with
Associated with Defects in
Enzyme Defects Proteins that
Regulate Cell
Growth
Transmission
Patterns of
Single-Gene
Disorder
Autosomal Dominant Disorders

manifested in the heterozygous state, so at least

one parent of an index case is usually affected

both males and females are affected, and both

can transmit the condition
AD Characteristics

• With every autosomal dominant disorder,

some proportion of patients do not have

affected parents
• Clinical features can be modified by

variations in penetrance and expressivity

• Age at onset is delayed
Autosomal Recessive Disorders

occur when both alleles at a

given gene locus are mutated
 AR Characteristics

First Second Third

if the mutant gene occurs with
trait does not usually siblings have one a low frequency in the
affect the parents of the chance in four of having population, there is a strong
affected individual, but the trait likelihood that the affected
siblings may show the individual (proband) is the
disease product of a consanguineous
marriage
AR Characteristics

more uniform expression

complete penetrance is common

onset is frequently early in life

mutations are rarely detected clinically

many of the mutated genes encode enzymes

Gary Turner
X-Linked Disorders

these disorders are expressed in males

X-Linked Characteristics:

An affected male does not transmit the disorder to his

sons, but all daughters are carriers

A heterozygous female usually does not express the full

phenotypic change because of the paired normal allele.
 Group Reporting
Divide the group into four
Subgroup 1: Huntington’s
subgroups Achondroplasia
Familial Hypercholesterolemia
Hereditary Spherocytosis
On your report, include:
Definition of Disease Subgroup 2: Porphyria
Cystic Fibrosis
Pattern of Inheritance Phenylketonuria
Pathophysiology Sickle Cell Anemia
Clinical Diagnosis Subgroup 3: Galactosemia
Signs & symptoms Taysach’s Disease
Red-Green Color Blindness
Diagnostic Findings Hemophilia A
Treatment
Subgroup 4: Lesch-Nyhan Syndrome
Pass your PowerPoint (in pdf form) & your Muscular Dystrophy
written output (in word form) on Wednesday Fragile X Syndrome
next week. Alport Syndrome
Group Reporting
Criteria -

Completeness of the Report 40%

Clarity 20%

Visual Aids 10%

Participation 20%
______________
100%