GENERAL BIOLOGY 2 GENETICS

GENE INTERACTION
AND
PEDIGREE CHART AND ANALYSIS

Content Standard
The learners understand Mendel’s Law of Inheritance.

Learning Competency
The learner should be able to Pedigree and predict genotypes based on pedigree analysis.
(STEM_BIO11/12-IIIa-b-1)

Specific Learning Objectives

 Distinguish between typical Mendelian inheritance and atypical Mendelian inheritance,
 Outline the process of genetic engineering,
 Explain how bacteria are used as model organism in research studies,
 Outline the key events and outcome of the human genome project and describe disease genes and
mutation types,
 Identify the procedure involved in DNA analysis and forensic medicine,
 Familiarize with basic bioinformatics tools and computational analysis of DNA and protein.,

GENE INTERACTION
In the previous chapters on genetics, we know that a gene will code for a protein and dictate a certain
trait; however, the effects of those proteins usually interact with other proteins and thereby influencing or
masking the traits (eg9- widow's peak masked by the baldness gene). Epistasis is the term applied when one
gene interferes with the expression of another (Cordell, 2002). William 8ateson, an English biologistreporteda
different phenotypic ratio in sweet pea than could be explained by simple Mendelian inheritance. This ratio is
9:7 instead of the 9:3:3:1 in a dihybrid cross between heterozygotes. If there are two genes and either one is
homozygous recessive, that gene is said to be epistatic to (or hides) the other.

Pedigree Chart and Analysis

A pedigree chart is a diagram that shows the occurrence and

appearance or phenotypes of a particular gene or organism and its
ancestors from one generation to the next. It is a presentation of
family information summarized in a chart using a standardized set of
symbols (Figure 1.1) where squares represent males and circles
represent females. For a person with unknown sex, a diamond
symbol is used. If the trait is homozygous, the symbol is unshaded,
and when the individual is heterozygous for the trait, this is indicated
by a half-fillled symbol. Lines represent relationship in a pedigree
chart. A horizontal line connects the parents and a vertical line leads
to their offspring. Each offspring is connected by a horizontal line
and represented by birth order from left to right. if the offspring to be
represented in the pedigree are twins, then they will be connected by
a triangle. If an offspring dies then a line will cross its symbol;
however, if the offspring is stillborn or aborted it will be shown as a
small triangle. A Roman numeral (0, 11, 11, and so on) represents
the generation, and each individual within the same generation is
identified by an Arabic number (1, 2, 3, and so on). Pedigrees
are often constructed after a family member manifests a certain Figure 1.1 Symbols Used in Pedigree Chart

GENE INTERACTION AND PEDIGREE CHART ANALYSIS 1

 GENERAL BIOLOGY 2 GENETICS

trait or genetic disorder and has been identified (Cummings et al, 2003).

Application of Recombinant DNA Technology

Recombinant DNA technology is a popular genetic engineering process of cutting and recombining
DNA fragments. DNA that contains genes for a particular protein are used and then recombined with the
circular bacterial DNA (plasmid) and then inserted into a bacterial cell through a process called transformation.
If scientists can alter DNA, they can then insert desired genes into another organism. They can modify the
genes of bacteria to cause them to produce more desired yield.
For instance, there was this case of the human gene wherein the gene can be inserted into a plasmid
vector to transfer the gene into a bacterial cell and absorbed by a host cell such as E. coli (Griffith etal., 1999).
This bacterial cell transformed (bacteria now has foreign DNA) with the recombinant DNA and the gene is
expressed. In a laboratory, these transgenic bacteria are cloned and the plasmid would then be replicated,
transcribed, and translated into a protein in the host cell. Many drugs are now manufactured this way. Scientists
insert a gene coding for the desired protein into a bacteria and the desired trait is expressed. To further
understand this topic, we encourage you to perform the activity on Let's Apply section of this chapter.

GENE INTERACTION AND PEDIGREE CHART ANALYSIS 2

 GENERAL BIOLOGY 2 GENETICS

References and Further Readings:

Adams, Mark D, Jenny M. Kelley, Jeannine D. Gocayne, Mark Dubnick, Mihael H.Polymeropoulos, Hong
Xiao, Carl R. Merril et al."Complementary DNA sequencing:expressed sequence tags and human genome
project" Science vol. 252, no. 5013,
1991, pp. 1651-1656.

Comet, Mike. "Human Karyotyping" From Mr. Comets Living Environment LaboratoryManual, 2006.
accessed July 20, 2016. http://www3.nd.edu/-nismec/biomodel/
mod9/9 Human Karyotyping Activity.pdf.

Cordell, Heather J. "Epistasis: what it means, what it doesn't mean, and statisticalmethods to detect it in
humans Human molecular genetics vol. 11, no. 20, 20o2,
2463-2468.

Cummings, Michael R, and Cecie Starr. Human heredity: principles and issues.
Thomson/Brooks/Cole, 2003.

Dobyns, W.B., Filauro, A., Tomson, B.N, Chan, A.S, Ho, A.W, Ting, N.T, Oosterwijk, J.C.and Ober, C.,
2004. Inheritance of most X-Ilinked traits is not dominant or recessive,
just X-linked. American journal of medical genetics Part A, 129(2), pp.136-143.
:30

Joyce, Andrew R, and Bernhard . Palsson. "The model organism as a system:

integrating'omics' data sets" Nature Reviews Molecular Cell Biology vol. 7, no. 3,
2006, pp. 198-210.

Griffiths AJF, Gelbart WM, Miller JH, et al. Modern Genetic Analysis. New York: W. H.
Freeman; 1999. Making Recombinant DNA. Available from: http://goo.gl/MbX525

Huret, Jean-Loup, and S. Senon. "Atlas of genetics and cytogenetics in oncology andhaematology"2006.

Killeen, Anthony A. "Genetic Inheritance." In Principles of Molecular Pathology, pp. 31-56. Humana Press,
2004.

Marshall, PA. (n.d) Modeling Concepts of 5, 3, Antiparallel and Complimentary in DNA

Structure. ASM Microbial Discovery Activity. Washington D.C. Adapted from: http:/
goo.gl/IFKloA

McKusick, Victor A. Mendelian in heritance in man: a catalog of human genes and genetic
disorders. Vol. 1. JHU Press, 1998.

Nigro, Janice M, Suzanne J. Baker, Antonette C. Preisinger, J. Milburn Jessup, R. Hostetter,Karen Cleary, S.
H. Bigner, Nancy Davidson, Stephen Baylin, and Peter Devilee.
"Mutations in the p53 gene occur in diverse human tumour types. Nature vol.342, no. 6250, 1989, 705-708.

Rassoulzadegan, Minoo, Valérie Grandjean, Pierre Gounon, Stéphane Vincent, Isabelle

GENE INTERACTION AND PEDIGREE CHART ANALYSIS 3