ISO 9001-2008
RESEARCH ORGANIZATION
Recognized By Govt. of India,
Ministry of Science and Technology
GENETIC CENTRE
FRIGE HOUSE
AHMEDABAD-380 015
Tele: +91-79-26921414/65128444
Fax: +91-79-26921415
Email: jshethad1@gmail.com
www.geneticcentre.org

Genetic Centre
Translation Research
IHG
Education and Research
Development

• To carry out basic and translation research in Genetics and Endocrinology
• To propagate scientific temperament in the state
• To create HRD in Biotechnology and Genetic Science

• Cytogenetics
• Molecular cytogenetics
• Molecular Genetics
• Biochemical Genetics
• Basic research in Birth defects and Diabetes

CLINICAL DIAGNOSIS
DOWN SYNDROME
RFL/BOH
PRIMARY AMENORRHOEA
MISCELLANEOUS
HYPOGONADISM
AMBIGUOUS GENITALIA
CANCER
ABORTUS
PRENATAL
TOTAL
TOTAL CASES
781
4168
378
917
183
259
904
1704
1285
10579
NORMAL
83
3996
265
807
150
241
408
1286
1190
8426
ABNORMAL
698
172
113
110
33
18
496
418
95
2153

(47,XX,+mar.ish i(18)(pter
 q11.1::q11.1
 pter)(cep18+,subtelpter++), arr 18p11.332p11.31(227,585-
14,918,854)x4 arr cgh 18p11.332p11.31 (chr18:1-14,918,854)(hg 18-NCBI build36)x3
There is a 14.9 Mb 18p11.32p11.31 duplication.

300
Number of
Patients
250
200
150
100
50
0
500
450
400
350
30
36
208
438
206 205
67
21
12
18 22
42
30 32
26
20 22
14
25
Disease Name

14
12
10
Number of
Patients
8
6
4
2
2
1
0
5
13
6
2
3
1
2
1
8
2
4
2 2
4
2
11
3 3
1 1
Rare Disease Name

• Screening for Mucopolysaccharidosis
(Urinary GAG qualitative and quantitative study from urine)
• Screening for I-cell disease
(Plasma study with p-NCS substrate)
• Screening for Gaucher/NPD A or B diseases
(Plasma Chitotriosidase study)
Sheth J, Sheth F, Oza N, Gambhir P, Dave U, Shah R.
Plasma Chitotriosidase activity in children with lysosomal storage disorders.
Ind J Pediatrics .77:203-205. 2010.
Sheth J, Mistri M, Kamate M, Vaja S, Sheth F: Diagnostic strategy for mucolipidosis II/III .
Ind Pediatrics 49:975-977, 2012.

Screening for storage disorders
Qualitative GAG analysis by electrophoresis for MPS screening
Plasma chitotriosidase for screening of Gaucher’s disease and NPD A/B
I-cell disease screening by enzyme study from plasma
Lysosomal enzyme study available at FRIGE
Mucopolysaccharide Panel
Glycoproteins Degradation
Defects in glycolipids and lipids
Defects in sulphatides
Glycogen Storage Disorder
:

-iduronidase,

-iduronidate sulphatase,
Heparan sulphamidase, N-Ac-

-glucosaminidase,

-galactose-6-sulphate sulphatase,

-galactosidase,
Aryl sulphatase B,

-glucuronidase,
:

-fucosidsase,

-mannosidase
: Hexosaminidase A & Total, Sphingomyelinase,

-glucosidase
: Arylsulphatase A,

-galactocerebrosidase
:

-1-4-glucosidase
:

-galactosidase Globotriaosylceramide
Defects in protein degradation : Tripeptidyl Peptidase I, Palmitoyl Protein Thioesterase
Defects in degradation of triglycerides and cholesteryls ester : Acid Lipase
Defects in lysosomal transporters
Defects in lysosomal trafficking proteins
:
:
Silaic acid
Niemann Pick disease C by Fillipin Stain method

Prevalance of LSD's in western India total=1262, Abnormal=450 (35.66%),
Normal=812 (64.34%)
80
70
60
71
Def ects in degrdation of
Def ects in degradation of gycolipids and
Def ects in degradation of sulphatides
Def ects in degerdarion of glycogen
Def ects in lysosomal transportes
Def ects in lysosomal traf f icking proteins
Def ects in degredation of proteins
50
43 43
40
34
35
30
30 27
21
20
18 18
19
14
11
12
10
4 4
5
0
M
PS
I
M
PS
II
M
PS
II
IA
M
PS
II
IB
M
PS
IV
A
M
PS
IV
B
M
PS
V
I
M
PS
V
II
Sa nd ho ff
Ta y
Sa ch
NP
D
A/
B
G au ch er
G
M
1 ga ng lio
Fa rb er
1
7
M
LD
Kr ab be
Po m pe
Si al ic
G al ac to ac id sia lid os is
3
5
M
LI
I
NP
D
C
Ba tte n
24
Typr of LSDs

[Total: 178, Normal/ Carrier: 133 (74.8%), Affected: 45 (25.2%)]
NCL II
2%
Pompe disease
2%
ML II/ III
4%
MPS IVB
4%
MPS II
2%
MPS III A
2%
MLD
2%
Gaucher disease
7%
MPS VI
7%
Krabbe disease
9%
MPS III B
2%
NPD A/B
13%
GM1 Gangliosidosis
17%
MPS I
14%
GM2 Gangliosidosis
13%

Leucine,
1, 6%
Glutaryl carnitine,
1, 6%
Propionic acidemia,
1, 6%
G-6-PD,
1, 6%
Tyrosinemia,
1, 6%
Isovaleryl cartinine,
4, 21%
Total=126
Abnormal=18 (14.29%),
Normal=108 (85.71%)
Propionyl cartinine,
3, 16%
Hydroxybutyryl cartinine,
3, 17%
PKU,
3, 16%

p.E462V
c.1278insTATC
p. D322Y
20 %
14 %
11 %
Mehul Mistri; Parag M Tamhankar, Frenny Sheth; Daksha Sanghavi; Pratima Kondurkar; Swapnil Patil; Susan Idicula-
Thomas; Sarita Gupta; Jayesh Sheth (2012) Identification of novel mutations in HEXA gene in children affected with Tay-
Sachs disease from India.
PLoS ONE 7(6):e39122. Doi;10.1371/journal.pone.0039122

Sheth J, Mistri M, Ankleshwaria C Tamhankar P, Bavdekar A, Datar C, Kamate M, Gupta S, Mehta S, Sheth F.
Molecular analysis for Gaucher, Taysach’s and Sandhoff disease in India Patients
. 62th Annual meeting of ASHG-2012. (Abstract
ID: 2803W)

UTR
Green
Exons
Intron
Novel mutations
Black Reported mutations
I II III IV
R359Q,G355D,V352M,S356F, R329C, E326K
V VI
G289A
VII VIII
R395C
IX X
L444P,R463C,
XI
I466S/?
R496C
•
L444P as predominant mutant allele in 65.6 % (21/32) India GD patients
•
Exon 8 and 10 are the hotspot region of the GBA gene where 93.74% of mutant allele are present
Sheth and Chitra et al : Unpublished work

Title:
“Effect of genetic variations in PPARG2 and ADRB3 gene in type 2 diabetic(T2D) subjects of Gujarat in relation to drug response” PI: Dr. JJSheth, Co-PI- Dr. FJ Sheth, JRF: A. Majumder .
UTR
Exons
Intron rs1801282, C CA> G CA, g.96890 C>G, c.34C>G, p.Pro12Ala
Effect Pro12Ala polymorphism and BMI on A1C level
10
9
8
5
4
3
7
6
2
1
0
8,1
7,5
8,5 8,4
≤ 25.0 Kg/m2
>25.0 Kg/m2
12Ala
BMI (Kg/m2)
12Pro
Subject No BMI ≤25 kg/m 2 : 18
BMI ≥25 kg/m 2 : 25
BMI ≤25 kg/m
2 : 103
BMI ≥25 kg/m 2 : 90
Association of Pro12Ala polymorphism & Vitamin D
3 level in Hb-glycation.
10
8
6
8,35
8,59
7,26
8,29
4
2
0
12Ala
12Pro
Subject No
≤ 25.0nmol/L
Pro/Pro: 125
Pro/Ala: 21
Ala/Ala: 1
>25.0nmol/L
Vitamin D3 level
(nmol/L)
Pro/Pro: 49
Pro/Ala: 39
Ala/Ala: 1
Avisek Majumder, Jayesh J Sheth, Frenny Sheth et al. Effect of PPAR2 gene polymorphism (Pro12Ala) on HbA1C and its association with BMI in Type 2 diabetes subjects from Western India; Endocr Rev 2013; Vol. 34

Total=137
Delhi
Jaipur
Ahmedabad
Anand
Saurashtra
Mumbai
Banglore
Gwalior
Chennai
Training given
To international
Students
Iraq : 2
Scotland : 1
U. S. A.
: 2
Dubai : 1
Nigeria : 2

 Identified gene mapping for ‘Clouston Syndrome’ in collaboration with Geneva University.
U
Radhakrishna, J Blouin, H Mehenni, T Mehta, F Sheth, J Sheth, J Solanki, S Antonarakis. ( 1997) The gene for Autosomal Dominant Hidrotic Ectodermal Dysplasia (Clouston Syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. American Journal of Medical Genetics. 71:
80-86.
 Coined the terminology of ‘Sub-biochemical Hypothyroidism in cases with normal TSH using
TRH ’.
J Sheth, P Thakor, B Trivedi, N Shah, R Vaidya .
( 1999) Sub-biochemical hypothyroidism: An exaggerated TSH response to TRH. J of Asso of Physician of India. 47(3): 275-279.
 Demonstrated for the first time about MTHFR (CT) allele to be commonly observed in our population & reported about the role of protein and Vitamin B12 together with folate interacting with unknown genes in folate metabolism pathway.
J. Sheth, F. Sheth (2003) . Gene
Polymorphism and Folate metabolism: A Maternal risk factor for Down syndrome? Indian Pediatrics
40(2):115-123.
 Demonstrated the role of Vitamin B12 in neural tube defects (NTD’s).
J. Sheth,F. Sheth, N.
Pandya, R. Vaidya (2003) Recurrent neural tube defects and Deficiency of Vitamin B12 beyond Folic
Acid. The Journal of Obstetrics and Gynecology of India Nov/ Dec 2003:53 No 6 596-597.
K. Godbole, P. Gayathri, S. Gule, BV Sasirekha , A. Kanitkar-Damle , N. Memane, S. Suresh, J.
Sheth, GR Chandak, CS Yajnik (2011 ). Maternal one carbon metabolism, MTHFR and TCN2 genotypes and neural tube defects in India. Birth Defects Res A Clin Mol Teratol. 91(9): 848-56. Doi:
10.1002/bdra.20841.

 Developed indigenous FISH probes using BAC clones for various micro-deletion syndromes and cancer.
F Vinsheth, Z Antonella, A Luisa, A Shah, J Sheth, M Rocchi (2003).
Cytogenetics and Fluorescence In-Situ Hybridization in detection of haematological Malignancies.
Indian
Journal of Cancer. 40(4): 135-139.
 Demonstrated large series of Down syndrome children from Western part of India and showed non-classical Down syndrome is higher from this region .
F Sheth, S Rao, M Desai, J
Vin, J Sheth (2007) . Cytogenetic Analysis of Clinical suspected Down syndrome cases in Gujarat.
Indian Paediatrics. 44(10): 774-777.
 First Indian study on non-invasive prenatal diagnosis of Down syndrome and other aneuploidy by ‘Triple Marker Study’ and established Indian norms for the study.
J Sheth, F
Sheth, N Oza, M Doshi (2008) . Triple maker study in mid-trimester of pregnancy and risk of chromosomal abnormality: An Indian Experience. Indian Journal of Obstetrics and Gynecology.
58(2):142-146.
 Only Centre in India to carry out study for ‘Cholesterol transport disorders (NPD-C)’ and
‘Glycogen storage disorders type-III’ by debranching enzyme study .
J Sheth, F Sheth, N Oza
(2008).
Niemann-Pick type C disease. Indian Pediatr. ;45(6):505-7.
 Study of ‘Cryptic Genomic Imbalance’ in cases having MCA and intellectual disability.
J
Andrieux, F Sheth (2009 ). CGH-Array study and its utility in children for detection of Constitutional and Acquired anomalies. Indian Journal of Experimental Biology. 47: 779-791

 Identified novel mutation for ‘Tay-Sach disease’ in Indian children in ‘HEXA gene’.
M Mistri,
P Tamhankar, F Sheth, D Sanghavi, P Kondurkar, S Patil, S Thomas, S Gupta, J Sheth (2012) .
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from
India. PLoS ONE. 7(6): e39122. doi:10.1371/journal.pone.0039122
 Developed simple colorimetric method for screening of ‘Mucolipidosis-II/ III’.
J. Sheth, M.
Mistri, M. Kamate, S. Vaja, F. Sheth (2012) . Diagnostic Strategy of Mucolipidosis II/III. Indian
Pediatrics. 49(12): 975-977.
 Demonstrated burden of ‘Lysosomal Storage Disorders’ in children from India.
J. Sheth, M.
Mistri, F. Sheth, R. Shah, A. Bavdekar, K. Godbole, N. Nanavaty, C. Datar, M. Kamate, N. Oza,
C. Ankleshwaria, S. Mehta, M. Jackson (2013) . Burden of Lysosomal Storage Disorders in India:
Experience of 387 Affected Children from a Single Diagnostic Facility. JIMD Reports. DOI
10.1007/8904_2013_244.
 Trained more than 200 students from biotechnology