BITTER TASTE:

TASTE TESTING
(PHENOTYPE) AND
PCR (GENOTYPE)
Donna C. Sullivan, PhD
Division of Infectious Diseases
University of Mississippi Medical Center
FIVE BASIC TASTES
Sweet
Sour
Bitter
Salty
Umami (the taste of monosodium
glutamate).
WHY DO WE HAVE THESE?
Sweet: Identify energy-rich nutrients
Umami: Recognize amino acids
Salt: Ensures proper dietary electrolyte
balance
Sour and bitter: Warn against the intake of
potentially noxious or poisonous chemicals
PHENYLTHIOCARBAMIDE
(PTC) TASTE RECEPTOR
The inability to taste certain compounds is usually
due to simple, recessive Mendelian inheritance.
Dozens of taste and odorant receptors have been
cloned and sequenced in the last 20 years.
The TAS2R28 gene encodes a bitter taste receptor
that enables humans to taste the compound PTC.
The PTC (TAS2R28) gene has a single coding exon, for
a polypeptide chain with 333 amino acids.
 PTC taste receptor, continued
Three common single nucleotide polymorphisms
(SNPs) are associated with PTC sensitivity.
Each SNP results in a change to the amino acid
sequence of the PTC receptor.

Table 1. Polymorphisms within the PTC gene

Position Position SNP Amino Acid
(bp) (amino acid) Allele Encoded
145 49 C or G Pro or Ala
785 262 C or T Ala or Val
886 296 G or A Val or Ile
THE SNPS ARE USUALLY INHERITED TOGETHER IN
CERTAIN COMBINATIONS, E.G., HAPLOTYPES
Table 2. SNP haplotypes of the PTC gene within two study groups
(named for the first letter of the amino acid present at positions 49, 262 and 296)

Haplotype European Freq. East Asian Freq.

PAV 49% 70%
AVI 47% 30%
AAV (from recomb. at aa 49) 3% -
A later screen identified two additional haplotypes, PVI and AAI, which were
found only in individuals of sub-Saharan African ancestry. The AVI haplotype was
found in all populations except Southwest Native Americans (Kim et al., 2003).
CERTAIN HAPLOTYPES ARE GENERALLY CORRELATED WITH
TASTER STATUS

Table 3. Genotype association with taste phenotypes (by haplotypes)

Genotype (diploid) Nontasters Tasters

AVI/AVI (73) 81% 19%
AVI/AAV (21) 52% 48%
*/PAV (170) 2% 98%
*= PAV, AVI or AAV. The total number of PTC genotypes observed was 5, as
no AAV homozygotes were observed in the study group (Kim et al,
2003).
 More Fun Informaton about PTC Receptor
PTC taste sensitivity displays a broad and continuous
distribution (e.g., it behaves like a quantitative trait).
On average, PTC taste sensitivity is highest for the PAV/PAV
(taster) homozygotes, slightly but significantly lower for the
PAV heterozygotes, and lowest by far for the AVI/AVI (non-
taster) homozygotes.
More rare AVI/AAV heterozygotes have a mean PTC score
slightly, but significantly, higher than the AVI/AVI
homozygotes.
All non-human primates examined to date are homozygous
for the PAV (taster) haplotype. Thus, the AVI nontaster
haplotype arose after humans diverged from the most
recent common primate ancestor.
There are non-taster chimps: same gene, but different
mutation than humans => molecular convergent evolution!!
DNA ISOLATION
PCR AMPLIFICATION
DIGEST WITH HAEIII
GEL ELECTROPHORESIS
RESULTS
PCR amplification
and restriction
digestion identifies
the G-C
polymorphism in the
TAS2R38 gene.
The C allele, on
the right, is digested
by HaeIII and
correlates with PTC
tasting.
RESULTS