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Disease Gene Chromosomal region Analysis Table






Disease                Gene                       Chromosomal region        Accession No.
DISEASE
GENE
CHROMOSOMAL REGION (LOCUS)
ACCESSION NO.
% IN PAKISTAN
MUTATIONS
HEARING DISORDERS (DEAFNESS)





Autosomal recessive
Non-syndromic hearing
impairment (ARNSHI)
DFNB65
20q13.2-q13.32.
692219


Non-syndromic recessive
deafness
TRIOBP/DFNB28
22q13.1
11078


Autosomal recessive
Non-syndromic deafness
TMPRSS3/DFNB8-10
21q22.3
64699
1.8%

Non-syndromic hearing loss (NSHL) sensorineural hearing loss
GJB2 /DFNB1
(Cx26)
(connexin 26)
13q11-12
4481752

W24X, W77X, Q124X
Autosomal recessive non-syndromic hearing impairment
DFNB38
6q26-q27
337991


Congenital deafness
DFNB37(MYO6) (Myosin 6)
6q13
4646



Usher syndrome (USH)
USH1C/
DFNB18
11p15.1
10083

15 mutations
Usher syndrome type 1F and  Non-syndromic recessive deafness
PCDH15/DFNB23

10q21-22
65217

R3X and IVS27-2A>G
A transition mutation (G262D, exon 8)



Autosomal recessive non-syndromic deafness
(pre lingual-non progressive)
DFNB35
14q24.1-14q24.3
 246148


Severe hearing loss in a patient with Smith-Magenis syndrome
MYO15A/DFNB13
17p11.2


51168


Autosomal recessive, non-syndromal sensorineural hearing loss
DFNB20
11q25-qter
1713


Non-syndromal, autosomal
recessive, sensorineural
hearing loss
DFNB16/STRC
15q15-22.


GJB2/DFNB1
(Cx26)
13q11-12
2706
27 families
GJB6 (Cx30)
Non-syndromic recessive deafness
DFNB7/11 TMC1
9q13-21

117531



Autosomal recessive nonsyndromic deafness
(postlingual-progresseive)
DFNB8
DFNB13
7q34-q36

1705


Autosomal recessive nonsyndromic deafness
TRIOBP-6
DFNB28
 22q13.1
11078


Q297X, R788X, R1068X,
R1117X,
D1069fsX1082, R1078fsX1083
Novel association of hypertrophic cardiomyopathy, sensorineural deafness, and a mutation in unconventional myosin VI
MYO6
6q13
4646


PHOTO-RECEPTORSDISORDERS






Hereditary conereceptor disorder
CNGA-1
chromosome 2q11.
71143140

F547L
Autosomal dominant Retinitis Pigmentosa(arRP)
RP30

1p13.3-p21.2(10.5 cM /8.9 Mbp region)



Autosomal dominant Retinitis Pigmentosa(arRP)
RP25
chr 6q15
8414


Autosomal recessive RP


RP29
chr 4q32-q34
54110















arRP
RP1
8q11
6101

c.4703delA
 c.5400delA
Autosomal recessive complete achromatopsia

CNGA3

chromosome 2q11.2

1261

F547L

Leber congenital amaurosis, autosomal recessive(LCA)
LCA9/ AIPL1
1p36/17p13.2
619483 /23746


Trp 278X
Rrecessively inherited degeneration of the retinal pigment epithelium
RBP4
10q23.33
5950


arRP

chr 1q



CORD(Cone-rod retinal dystrophy)
CORD8
1q23.1-q23.3



Variant form of Oguchi disease
GRK1
13q34
6011



ANEMIC DISORDERS






HBB
HBB, Human

28302128


Beta thalassemia



5.6%
punjab
IVSI-5 (G-C) (37.3%), Fr 8-9 (+G) (25.9%), del 619 (7.0%), Fr 41-42 (-TTCT) (6.7%),IVSI-1 (G-T) (5.4%),
Cd126-131 deletion
IVS-II-848 (C-->A),
IVS-I-1 (G-->T)
db-thalassemia





Hereditary aplastic anemia
Trisomy 8


22.5%
22q-, t(14;22) and t(15;21)
Hereditary spherocytosis
4.2gene(EPB42)
15q15-q21
2038

CD47
COAGULATION DISORDERS





Factor X deficiency
Factor X
chromosome 13q34
2159
3.5% (North Pakistan)
CRM+, CRM-, CRMred
Factor FXIII




Val316Phe
Gly262Glu
Genetic deficiency of FVIII - classic hemophilia (hemophilia A)
F5F8D
chromosome 18q

LMAN1 (ERGIC-53) MCFD2
Familial thrombophilia
antithrombin 111 (AT III) deficiency



6.2%


hereditary thrombophilia



2.3% for protein C deficiency, 1.4% for protein S deficiency, 1.5% for antithrombin III deficiency, 14.2% for factor V leiden mutation and 2.0% for homocystenemia

Thromboembolism(Hereditary deficiency of Antithrombin III)
ATIII
1q23-q25.1
462
4.6%

Thrombophillia in thromboembolism
factor V gene (factor V Leiden)
1q23
2153
10-60% cases of thromboembolism
R506Q
METABOLIC DISORDERS





Hereditary congenital hyperammonemias





Hereditary diabetes (Type II)
(ENPP1)PC-1 K121Q
exon 4
5167



X-linked Red cell glucose-6-phosphate dehydrogenase (G6PD)

X chromosome


563 (the Mediterranean mutation)
CARDIOVASCULAR DISEASES:





Cardiovascular disorders (Hypoalphalipoproteinemia)

ABCA1 gene


R219 allele and L825 allele
19

R219K and V825L polymorphisms
OTHERS





Spondyloepimetaphyseal dysplasia (SEMD)



16 individuals

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis)

BBS8 gene


9q34.3

14 individuals

Hereditary congenital facial palsy (HCFP)
HCFP1,
PODXL2, PLEXIN-D1, GATA-2, and TMCC1
3q21.2–q22.1

7880
50512
2624
23023


Autosomal recessive hereditary hypotrichosis

18q21.1



Autosomal recessive Alopecia with mental retardation syndrome

3q26.33-q27.3



Keratoconus

chromosomes 16q and 20q



Rheumatoid arthritis
HLA-DR genes HLA-DRB1(3AHVR),HLA-DR4,HLA-DR5,HLA-DR10,HLA-DR15,HLA-
6p21.3




3126
3127


Hereditary spastic paraparesis with distal muscle wasting, microcephaly, mental retardation, arachnodactyly and tremors

 



4patients

Autosomal recessive Micro syndrome

 



3 children

Congenital adrenal hyper plasia

 





Hereditary Hemochromatosis

 













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  • Title : Disease Gene Chromosomal region Analysis Table
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