SEM – 5
UNIT- 2
Types of Inheritance: Autosomal, Sex-linked, Sex influenced, and Sex-limited
traits in Man
Inheritance- It’s the manner in which a particular genetic trait or disorder is passed from one
generation to the next.
Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed
down from parents through combinations of their 46 chromosomes.
Inheritance in chromosomes
Allosomes Autosomes
X and Y, the two most popularily
known chromosomes, are part of The rest of the 22 pairs are
the 23rd pair of chromosomes. called autosomes. Each
These chromosomes contain genes autosome have several genes
that determine the biological sex of each of which performs certain
an organism. unique functions.
Autosomes and sex chromosomes contain a total of about 20,000 genes.
These genes are essentially 99.9 percent identical in every human being. But small variations in these
genes determine the rest of your genetic makeup and whether you inherit certain traits and
conditions.
Types of Inheritance
Types of
Inheritance
Autosomal Sex-linked Sex Influenced Sex limited
Inheritance Inheritance Inheritance Inheritance
Autosomal
X linked Y linked
dominant
Autosomal X linked
recessive dominant
X linked
recessive
1) Autosomal Inheritance- Within these 22 autosomes are two categories of genes that
pass on different traits and conditions from your parents. These categories are called
autosomal dominant and autosomal recessive.
1. Autosomal dominant inheritance- Inheritance transmission on a dominant allele on an
autosomal causes a trait to be expressed. The autosomal genetic inheritance pattern is an
abnormal gene that is dominant over the normal gene. The individual shows the characteristics
associated with the abnormal gene. The inheritance pattern described a dominant trait or
condition caused by a mutation in a gene on the X chromosome. The condition is expressed in
heterozygous females as well as males, who have only one X chromosome. Affected males tend
to have a more significant disease than affected females. Disorders inherited in this manner are
relatively rare.
Characteristic of Autosomal dominant inheritance
I. Both males and females are affected.
II. The disease is observed in multiple generations.
III. Transmission of the disease can be from both sexes.
IV. Mutation in only one allele is enough to express the disease.
V. Vertical transmission.
VI. The offspring 50% chance to have the disease.
Example diseases of Autosomal dominant are
Achondroplasia
Aniridia
Marfan syndrome
Steinert myotonic dystrophy
Polydactyly
Adenomatous polyposis of the colon
2. Autosomal recessive inheritance- The gene in question is located on one of the
autosomes. These are numbered pairs of chromosomes, 1 through 22. Autosome does not affect
offspring gender. Recessive means that two copies of the gene are necessary to have the trait or
disorder. Some of the autosomal recessive inheritance diseases are -Heredity breast and ovarian
cancer, galactosemia, and cystic fibrosis.
Some of the characteristics of autosomal recessive inheritance are:
I. Both males and females are affected.
II. The disease is observed in only a single generation.
III. Both gene alleles (homozygous) need to be affected in order to express the disease.
Example diseases of recessive inheritance are
Glycogenosis, VI types
Sugar intolerance; galactose, fructose, saccharose, lactose
Mucopolysaccharidoses VI types, except Hunter disease MPSII which is RLX
Most Amino acid disorders: phenylketonuria sickle cell anemia, tyrosinase, cystinosis,
leucosis, albinism variants
2) Sex-linked- The pattern of inheritance that may result from a mutant gene to located on
either the X or Y chromosome.
Sex-linked inheritance has three types:
1. X-linked dominant
2. X-linked recessive
3. Y-linked
1. X- linked dominant- The inheritance pattern describing a dominant trait or condition
caused by a mutation in a gene on the X-chromosome. The condition is expressed in
heterozygous females as well as males, who have only one X-chromosome. Affected males
tend to have more significant diseases than affected females. Disorders inherited in this
manner are relatively rare. Vitamin D-resistant rickets.
2. X- linked recessive- It is a mode of inheritance in which a mutation in a gene on the X-
chromosome causes the phenotype to be expressed in males and in females who are
homozygous for the gene mutation. The diseases are passed down through families one of
the X or Y chromosomes.
3. Y- linked- Y chromosome is present only in males Therefore the traits are passed on to the
son from the father in this type of transmission that is to say All sons of an affected male are
affected. Affected males always have affected fathers.
Examples of Sex-linked diseases are
Colour blindness
Haemophilia A and B
Angio keratosis (Fabry disease)
Duchenne muscular dystrophy
Incontinentia pigmientosum
Agammaglobulinemia, Bruton type
G6PD deficiency
Autosomal traits Sex-linked traits
1. The inheritance of autosomal traits is
1. The inheritance of sex-linked inheritance is
based on the autosomal
based on the sex-chromosomes.
chromosomes.
2. The inheritance of sex-linked traits follows the
2. The inheritance of autosomal traits
criss-cross inheritance and do not follow
follows Mendelian principles.
Mendelian principles.
3. The inheritance of autosomal traits are 3. The inheritance of sex-linked traits mainly
equal for both male and female affects males because they only have one X
because they both have the same chromosome whereas females have two X
number of autosomes. chromosomes, hence are least affected.
4. The autosomal traits are classified as
4. The sex-linked traits are classified as Sex-linked
autosomal dominant traits and
dominant traits and sex-linked recessive traits.
autosomal recessive traits.
5. Mostly all the alleles are involved 5. Only alleles of X-chromosome are involved.
Sex influenced-
Sex limited-
The Twin method and the types of Twins and their importance in genetic
investigation
Twin studies have been extensively used in human genetics to estimate the heritability of a
particular trait wherein relative contributions of heredity and environment may results into varied
phenotypic expression. The method analyzes the genetic contribution of a particular trait as against
the environmental factors. Perhaps the first, a systematized study on twins was reported in 1924
where geneticist Hermann Siemens compared school transcripts of identical versus fraternal twins to
understand the genetic influence on traits (Lewis, 2009. Twins can be monozygotic twin (MZ,
identical) or dizygotic twin (DZ, non-identical). MZ twin results from the fusion of one sperm and one
egg resulting into a single zygote which further divides into two at the embryo stage. While DZ twin
results from two different zygotes each formed by the fusion of a sperm and an egg separately. MZ
twins are of same sex while DZ twins may be of same sex or different sex. Since MZ twin is
developed from a single zygote, it is regarded as having common genetic constitution and DZ as
having different genetic constitution like that of siblings. Methodologically, twin studies is a
longitudinal studies where the researchers compare traits of interest in DZ twins rearing together in
the same environment or in MZ twins rearing apart in different environment or vice versa. It is based
on the assumption that the differential traits developed in MZ twins reared apart would be affect of
the environmental factors. Similarly, the alike traits developed in DZ twins reared together would be
because of common environmental exposure. One of the important measurements to find out the
relative contributions of heredity and environment for quantitative characters is Concordance scores
of a trait. It is defined as the percentage of pairs in which both twins express the trait among pairs of
twins in whom at least one has the trait (Lewis, 2009) Twins sharing a common phenotype are said
to be concordant and as well twins sharing different phenotype are said discordant. Twin studies
have been considered as important method to assess nature (genetic) and nurture (environment)
approach. Twins both MZ and DZ reared apart shows that the influence of genetic and
environmental factors in phenotypic expression. Concordant traits developed in twins reared apart
indicate the role of genetic factors.
