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Disease Gene Features

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The table below lists some features of disease genes studied in the laboratories of Dr. Stone and Dr. Sheffield. Some features include gene size, genomic structure and the likelihood that a given segment will yield meaningful information. These features must be considered when developing a high-yield but affordable test. It is interesting to note the wide variation among different genes.

Disorder Gene Exons Amplimers for Exons Screened
C. N.C. SCR. T N S A
Achromatopsia ACHM2 7 0 7 15 2 9 4
ACHM3 18 3 15 16 0 2 14
Aniridia PAX6 13 0 13 14 0 0 14
Bardet-Biedl BBS1 17 0 17 17 0 0 17
BBS2 17 0 17 16 0 0 16
BBS4 16 0 16 16 0 0 16
BBS6 4 2 4 4 0 0 4
BBS7 18 0 18 18 0 0 18
Best Disease VMD2 10 1 10 12 0 4 8
Choroideremia CHM 15 0 15 17 1 - -
Cone-Rod Dystrophy CRX 3 0 3 7 0 0 7
ABCA4 51 0 51 51 0 17 34
Corneal Dystrophy-Stromal BigH3 17 0 2 2 0 0 2
Dominant Optic Atrophy OPA1 28 1 28 28 1 1 26
Enhanced S-Cone Syndrome NR2E3 8 0 8 9 1 3 4
Juvenile Open Angle Glaucoma GLC1A/Myocilin/TIGR 3 0 1 4 0 1 3
Leber Congenital Amaurosis AIPL1 6 0 6 9 0 2 7
CRB1 12 0 12 27 0 2 23
CRX 3 0 3 7 0 0 7
GUCY2D 19 1 19 22 0 2 20
RPE65 14 0 14 14 0 0 14
RPGrip 23 1 24 32 1 10 21
Leber Hereditary Optic Neuropathy Mito 3460 1 0 1 1 0 0 1
Mito 11778 1 0 1 1 0 0 1
Mito 14484 1 0 1 1 0 0 1
Malattia Leventinese EFEMP1 12 2 1 1 0 0 1
Norrie Disease NDP 2 1 2 4 1 0 3
Pattern Dystrophy RDS 3 0 3 7 0 1 6
Primary Open Angle Glaucoma GLC1A/Myocilin/TIGR 3 0 1 4 0 1 3
Retinitis Pigmentosa (A.D.) RDS 3 0 3 7 0 1 6
RHO 5 0 5 9 0 0 9
RP1 3 1 1 1 0 0 1
Sorsby Dystrophy TIMP3 5 0 4 5 1 4 0
Stargardt (A.D.) ELOVL4 6 0 6 6 1 0 5
Stargardt (A.R.) ABCA4 51 0 51 51 0 17 34
Von Hippel Lindau VHL 3 0 3 5 1 2 2
X-Linked Retinoschisis RS1 6 0 6 6 0 0 6

C = coding exons
NC = noncoding exons
SCR = exons screened by our lab
T = total amplimers for coding regions (~200-300bp in size each)
N = amplimers that never PCR'd
S = amplimers that sometimes PCR'd
A = amplimers that always PCR'd
A.D. = autosomal dominant
A.R. = autosomal recessive

Retrieved Sat, 2018-12-15 16:17
Last modified Wed, 06/06/2007 - 21:09
www.carverlab.org/disease-gene-features