EXERCISE_3_MOLECULAR GENETICS

Using the OMIM database or other search the genetic mutations/variants that
cause or are associated with the diseases listed below. Prepare a report (word, pdf,) by
completing a table giving the name of the gene or genes, its/their location on the
chromosome, write funkcion of gene (s), defined mutations/genetic variants
responsible for the disease.

Submit the report to Blackboard before completing the exercise.

Name of the disease Name Location on Function of Type of inheritance

of chromosome gene(s)
gene(s) Defined
mutation(s)/Genetic
variant(s) responsible
for disease

SMITH-LEMLI-OPITZ
SYNDROME; SLOS Encodes the enzyme Autosomal recessive
7-dehydrocholesterol IVS8 - 1G - C
(OMIM ID: DHCR7 11q13.4 reductase. This protein T93M
# 270400) catalyzes the last step of V326L
cholesterol biosynthesis E448K

GILBERT SYNDROME Encodes a UDP- Autosomal recessive

(OMIM ID: glucuronosyl-transferase, G71R,
# 143500) UGT1A1 2q37.1 an enzyme of the -3263T-G
glucuronidation pathway. A(TA)7TAA

EXAMPLE
Type of inheritance
Name of the Name of Location on Function of gene(s) Defined mutation(s)/Genetic variant(s)
disease gene(s) chromosome responsible for disease

MARFAN FBN1 15q21.1 AD

SYNDROME
G8268A, TRP2756TER
(OMIM ID: CYS1249SER
# 154700) CYS1663ARG
CYS2221SER
TYR2113TER, EX51DEL
83-BP DEL
IVS54DS

PRZYKŁAD
DEPARTMENT OF CLINICAL GENETICS