Table 2.
Mutation profile of some common genetic disorders from India
| Disease (Gene) | Common mutations in India (%) | Worldwide common mutations | Reference | ||
|---|---|---|---|---|---|
| Beta thalssemia (HBB) | North India | IVS 1–5 G>C (44.8%) 619 bp deletion (13%) Codon 8/9 +G (11%) Codon 41/42 -TCTT(10.3%) IVS 1–1 G>T (8.6%) |
Mediterranean | -87C>G IVS1-1G>A IVS1-6T>C IVS1-110G>A cd39C>T |
Varawalla et al. (1991), Das et al. (2000), Agarwal et al. (2000), Colah et al. (2009), Sinha et al. (2011), Cao et al. (2000), |
| Central India | IVS 1-5 G>C (49.8%) 619 bp deletion (16.6%) IVS 1-1 G>T (8.9%) Codon 8/9 +G (7.3%) |
Middle east | cd8-AA cd8/9+G IVS1-5G>C cd39C>T |
||
| West India | IVS 1-5 G>C (50.7%) 619 bp deletion (14.2%) IVS 1-1 G>T (8.7%) Codon 15 G>A (7.6%) |
Chinese | -28A>G 17A>T 41/42-TTCT |
||
| East India | IVS 1-5 G>C (71.6%) Codon 41/42 -TCTT(6.1%) Codon 15 G>A (5.6%) |
Thai | -28A>G 17A>T 19A>G |
||
| South India | IVS 1-5 G>C (68%) Codon 15 G>A (8.8%) Poly A site T>C (4.7%) |
African/American African | -88C>T -29A>G IVS1-5G>T cd24T>A |
||
| Cystic fibrosis (CFTR) | ΔF508 deletion (31-34%) p.R1162X (2.2%) p.M1T (0.8%) S559N (0.8%) |
Northern European heritage ΔF508 (66%) G542* (2.4%) G551D (1.6%) N1303Lys (1.3%) W1282* (1.2%) |
Moskowitz et al. (2001), Sachdeva et al. (2011, 2012) | ||
| Hypohidrotic/Anhidrotic ectodermal dysplasia (EDAR & EDA) |
EDAR mutations- 46% c.1144G>A in 5/12 families with EDAR mutations EDA mutations- 42% |
EDAR - 15–20% EDA - 55–60% |
Bashyam et al. (2012), Wright et al. (2003), | ||
| Metachromatic leukodystrophy (ARSA) | c.459+1G>A- 2/16 families | European population c.459+1G>A (15–28%) p.Pro426Leu (15–27%) p.Ile179Ser (2–13%) Japanese population p.Gly99Asp (45%) |
Shukla et al. (2011), Fluharty (2006), | ||
| Morquio syndrome A (GALNS) | p.Ser287Leu (8.82%) p.Phe216Ser (7.35%) p.Asn32Thr (6.61%) p.Ala291Ser (5.88%) |
Latin American p.Arg386Cys Irish, Australian p.Ile113Phe p.Thr312Ser Colombia p.Gly301Cys |
Bidchol et al. (2014), Regier et al. (2013), | ||
| Progressive Pseudorheumatoid arthropathy of childhood (WISP3) | c.1010G>A – 10/25 families c.233G>A- 4/25 families |
Scarce data c.156C>A- Turkey, Lebanon, Syria c.327C > A- Turkey c.727_731delGAGAA- Turkey |
Dalal et al. (2012), Garcia Segarra et al. (2012) | ||
| Megalencephalic leukodystrophy with subcortical cysts (MLC1) | 320insC – 31/31patients from Agarwal community | Libyan and Turkish Jews c.176G>A Japanese c.278C>T |
Gorospe et al. (2004), van der Knaap and Scheper (2003) | ||
| Tay Sachs disease (HEXA) | c.1385A>T (p.E462V)-6/15 families from state of Gujarat | Ashkenazi Jews c.1274_1277dupTATC c.1421+1G>C French Canadian 7.6-kb del |
Kaback and Desnick (1999), Mistri et al. (2012) | ||
| Mucopolysaachridosis type VI (ARSB) |
p.W450C (c.1350G>C)- 4/14 families, Founder mutation p.L98R (c.293T>G),- 3/14 families, Hot spot mutation |
p.Y210C p.R152W- 50% in some European nations |
A. Uttarilli, P. Ranganath, S.J.M. Nurul Jain, K.P. Chintakindi, A. Sinha, I.C. Verma, unpubl. data, Karageorgos et al. (2007) | ||