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Year book, 2013

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Diagnosis of Genetic disorders and identification of favourable economical traits for dairy
animal improvement programme in India
Dr R K Patel
Principal Scientist (Animal Biotechnology)
Sandor Proteomics Pvt Ltd., Hyderabad
Email: rk_patel@sandor.co.in
1. Chromosomal analysis / Karyotyping:
Reduced fertility or infertility is a major problem in Indian cattle and buffaloes. Reproductive
failure in animals may be because of several reasons including poor feeding, management, poor
quality of AI etc. However, it can be also due to genetic reasons e.g. chromosomal abnormalities
which are usually associated with reduced fertility / infertility, embryonic loss, foetal waste and
internal or external genital malformation. Chromosomal abnormalities account for a substantial
losses in animals production and quite a few bulls reared for breeding cannot be used effectively
due to problems related to fertility. The chromosomal abnormalities can affect a large population
in two ways: i) it can be transmitted to large population through Artificial Insemination
programme and ii) it can cause repeat breeding problems in females because of embryonic
losses, and poor semen quality in breeding bulls. All these animals can be karyotyped even at calf
hood stage. Subsequently, abnormal animals can be culled to avoid the risk of transmission and
minimize the cost on rearing of abnormal animal.
2. Genetic Diseases
Several genetic disorders in animals, controlled by recessive genes, are the cause of concern
worldwide. With the wide use of AI, these genetic diseases can spread to large population as
animals carrier of the disease look normal. These disorders are HF breed specific. In India, where
HF animals are extensively used for crossbreeding programmes, it has become necessary to
screen all HF and their crossbreds to minimize the risk of spreading these diseases among future
bulls and bull mothers. The diagnosis is based on molecular techniques. The cases of carriers for
various genetic diseases could be much higher than what are reported if regular screening of
genetic diseases is performed for every breedable animal.
i. Bovine Leukocyte Adhesion Deficiency (BLAD) Syndrome is very common worldwide,
causing impaired neutrophils, which fail to combat invading organisms or infection
especially in newborn calves. New born may die due to persist infection.
Some of BLAD carriers reported in India
S No.
No of bulls BLAD carrier bulls
tested
Number
1.
150
2
1

References
%
1.33

Padeeri et al., 1999

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2
3
4
5
6

711
55
55
42
120

23
2
1 (affected)
2
2

3.23
3.64
1.82
4.76
1.67

Patel et al., 2006

Yathish et al., 2010
Yathish et al., 2010
Patel et al., 2011
Roy et al., 2012

ii. Bovine Citrullinaemia is urea cycle disorder, wherein one of the enzymes;
Argininosuccinate synthetase (ASS) is impaired in function, causing neurological problem
and subsequent death of animal due to accumulation of ammonia in brain.
Some of Citrullinaemia carriers reported in India
S No.
No of bulls Citrullinaemia carrier bulls
tested
Number
%
1.
150
1
0.67
2
120
2
1.67

References
Padeeri et al., 1999
Gaur et al., 2012

iii. Deficiency of Uridine Monophosphate Synthase (DUMPS) is causing early abortions due
to impaired enzyme which stops cell division in embryo cells, leading to repeat breeding
problems.
First case of DUMPS carrier reported in India
S No.
No of bulls Citrullinaemia carrier bulls
tested
Number
%
1.
86
1
1.16

References
Gaur et al., 2013

iv. Factor XI deficiency syndrome is bleeding disorder. Factor XI is one of more than a dozen
proteins involved in blood clotting responsible for coagulation of blood during bleeding is
impaired, causing death of animal due to continuous bleeding.
Some of FXI carriers reported in India
S. No. No of bulls FXI carrier bulls
tested
Number
1.
595
2

References
%
0.34

Patel et al., 2007

v. Complex Vertebral Malformation (CVM) is vertebral anomalies causing still birth. The
Impaired protein molecules fail to transport nucleotide sugar and a coenzyme which
required for vertebral formation.
Some of CVM carriers reported in India
S NoS No.
No. of bulls
CV carriers bulls
tested
No..
%
2

References

Dairy in India

Year book, 2013

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1
2

52
60

12
1

23.07
1.67

Mahdipour et al. (2010)

Kotikalapudi et al., (2013)

vi. Bovine Dermatosparaxis also known as cutaneous asthenia or EhlersDanlos syndrome is

skin disorder causing fragility of the skin due to collagen dysplasia in number of breeds
including Holstein. Many cases reported worldwide, however, no animal was found
carrier for the diseases out of 131 cattle of various breeds (unpublished).
3. Marker Assisted selection in Animal breeds
Most of the economically relevant traits for animal production (birth weight, weaning weight,
growth, reproduction, milk production, carcass quality, etc.) are complex traits controlled by
many genes, and they are additionally influenced by the environment. The sequence of a gene
can differ between individuals. These differences are called genetic variants or alleles that may
regulate the production of different quantities. If an allele is positively related to the production
trait is known as favourable allele/gene. Tests have been developed to identify whether an
animal is carrying a segment of DNA that is positively or negatively associated with the trait of
interest.
i.

Kappa Casein: Two major genetic variants of -casein A and B have been identified. casein gene variant B would be more desirable than A variant since it is linked with
higher casein, cheese yielding capacity, total protein, fat content in the milk curd firmness.

ii.

Beta-lactoglobulin: Two genetic variant of -lactoglobulin- A and B have been identified.

Variant B would be more desirable than A as it is linked with higher protein and fat.

iii.

Diacylglycerol O-acyltranferase 1 (DGAT1): Two genetic variants of DGAT1- K and A have

been identified. In particular, the allele encoding the lysine 232 variant (K) is more
desirable than A as it is linked with higher milk fat synthesis.

iv.

Prolactin is also responsible for the development of mammary gland and milk production.
Two genetic variant of prolactin A and B have been identified. A-allele is favorable as it is
linked with bigger size of mammary gland, which may be directly proportional to more milk
production.

v.

Pituitary-specific transcription factor 1 (Pit-1) activates expression of the prolactin,

thyrotropin and GH genes in the anterior pituitary gland. This gene is another candidate for
milk production marker. Two genetic variants- A and B have been identified. A-allele is
more favourable for milk and protein yields.

vi.

Bovine Leptin is a protein synthesized by adipose tissue and it is involved in the regulation
of feed intake, energy balance, fertility and immune function. Two genetic variants A and
3

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B have been identified. B allele is more favourable for improving milk production without
negative energy balance and low fertility.
4.

Parentage Verification in livestock species

Paternity test in animal is becoming very important for accurate selection of future sires to
increase production and reproductive traits. The paternity test for cattle, buffaloes, goats,
camels and all ruminant species are available. The test is based on microsatellite markers.