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Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity

F.H. Abbasali

F.H. Abbasali

Hematology & Oncology Research Center, Tabriz University of Medical SciencesTabriz, Iran
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Abbasali, F.H.
, 
K.Sh. Mahmoud

K.Sh. Mahmoud

  • Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical SciencesTabriz, Iran
  • Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Mahmoud, K.Sh.
, 
N. Hengameh

N. Hengameh

Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Hengameh, N.
, 
D.H. Mina

D.H. Mina

Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Mina, D.H.
, 
D. Setare

D. Setare

Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Setare, D.
, 
D.M Hale

D.M Hale

Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Hale, D.M
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D.M. Sima

D.M. Sima

  • Medical Genetic Department, Faculty of Medicine, Tabriz University of Medical SciencesTabriz, Iran
  • Ebne Sina Medical Genetics Laboratory, Specialized and Sub-specialized Outpatient Clinics, Tabriz University of Medical SciencesTabriz, Iran
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Sima, D.M.
  
May 02, 2023
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity's Cover Image
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Article Category: ORIGINAL ARTICLE
Published Online: May 02, 2023
Page range: 51 - 62
DOI: https://doi.org/10.2478/bjmg-2022-0016
Keywords
© 2022 Abbasali F.H. et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Representative samples of Lepore and sicillian deletions detected by GAP-PCR. Lane 2 corresponds to heterozygous case of Lepore deletion (upper band normal and lower band mutant) and Lane 6 corresponds to heterozygous case of sicillian deletion (upper band normal and lower band mutant). Cases 1, 3, 5, and 7 show norma-related PCR fragments. Lane 4 and 8 corresponds to negative PCR control. M corresponds to molecular marker 5obp.
Representative samples of Lepore and sicillian deletions detected by GAP-PCR. Lane 2 corresponds to heterozygous case of Lepore deletion (upper band normal and lower band mutant) and Lane 6 corresponds to heterozygous case of sicillian deletion (upper band normal and lower band mutant). Cases 1, 3, 5, and 7 show norma-related PCR fragments. Lane 4 and 8 corresponds to negative PCR control. M corresponds to molecular marker 5obp.

Figure 2.

MLPA analysis of β-globin locus using the SALSA MLPA Probemix P102 HBB-panel A and B illustrates deletion from HBD exon 1 to HBB promoter “and “Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB, respectively.
MLPA analysis of β-globin locus using the SALSA MLPA Probemix P102 HBB-panel A and B illustrates deletion from HBD exon 1 to HBB promoter “and “Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB, respectively.

Figure 3.

Sequencing results of rare point mutations: The name of mutation is denoted on the chromatogram. Arrows indicate the mutation positions.
Sequencing results of rare point mutations: The name of mutation is denoted on the chromatogram. Arrows indicate the mutation positions.

Figure 4.

Sequencing results of point mutations which reported for the first time in Iran: The name of mutation is denoted on the chromatogram. Arrows indicate the mutation positions.
Sequencing results of point mutations which reported for the first time in Iran: The name of mutation is denoted on the chromatogram. Arrows indicate the mutation positions.

Figure 5.

Frequency of the rare mutations in the Azeri population of Northwestern Iran.
Frequency of the rare mutations in the Azeri population of Northwestern Iran.

Distribution of thirty nine rare mutations in Iran and neighboring countries

  Mutations β0/β+ HGVS Current Study No (%) North of Iran (%) (30) South-West Iran No (%) (31) Central Iran (%) (32) General in Iran - I (%)(33) General in Iran - II No (%) (34) Pakistan (%) (29) Turkey (%) (25) Iraq (%) (26) Azerbaijan (%) (27, 28)
1 Sicilian(-13,337bp) δβ0 NG_000007.3:g.64336_77738d el13403 31(2.01) (1.26)
2 CD36/37(-T) β0 HBB:c.112delT 30 (1.94) (0.8) (14) (19.7) (5.52) (0.23) (0.19) (1.18)
3 CD15(TGG>TGA) β0 HBB:c.47G>A 22 (1.42) (2.1) 3 (3.99) (4.6)
4 CD22/23/24-7 bp(-AAGTTGG) β0 HBB:c.68_74delAAGTTGG 17 (1.1) (3) (0.64) (1.4) (0.95) (0.29) (0.19) (0.29)
5 IVS-II-745 (C>G) β+ HBB:c.316-106C>G 15 (0.97) (2.3) (1.3) (4.8) (1) (3.87) (1.34) (0.88)
6 IVS-I-128( T>G) β+ HBB:c.93-3T>G 12 (0.78) (1) 4 (5.32)
7 CAP+20 (G>A) β+ HBB:c.-31C>T 12 (0.78) (1) -
8 25bp del β0 HBB:c.93-22_95del 11(0.71) (1.20) (5.6) (4.8) (2.23) (0.96)
9 (-28) TATA Box β+ HBB:c.-78A>G 10 (0.65) (0.5) (0.36) 1 (1.33)
10 CAP+22 (G>A) β+ HBB:c.-29G>A 8 (0.52) (0.8) 1 (1.33)
11 IVS-I (-1) or CD 30 (G>A) β0 HBB:c.92G>A 8 (0.52) (7.7) (0.68) (1.92) (2.8) (0.38) (0.59)
12 (-88) C>A β+ HBB:c.-138C>A 8 (0.52) (0.3) (0.9)
13 IVS-I-130(G>C) β0 HBB:c.93-1G>C 7 (0.45) (1.6) (0.8) 11(14.6)
14 CD82/83 (-G) β0 HBB:c.251delG 6 (0.38) - (2.1) - 9(11.97)
15 CD35(C>A) β0 HBB:c.108C>A 6 (0.39) - -
16 IVS-II-848(C>A) β+ HBB:c.316-3C>A 6 (0.39) - (0.82) -
17 -87(C>T) β+ HBB:c.-137C>T 5 (0.32) 1(1.33)
18 CD29(C>T) β+ HBB:c.90C>T 5 (0.32) - -
19 CD25/26(+T) β0 HBB:c.78_79insT 5 (0.32) - - (0.3) 2(2.66)
20 (-87)C>G β+ HBB:c.-137C>G 5 (0.32) - - -
21 (-101)C>T β++ (silent) HBB:c.-151C>T 4 (0.26) - (0.64) - 2(2.66)
22 CD41/42(-CTTT) β0 HBB:c.126_129delCTTT 4 (0.26) - (0.36) (0.3) 4(5.32)
23 CAP+1548 (A>G) unknown HBB:c.*74 (A>G) 4 (0.26) - - -
24 (-86) C>G β+ HBB:c.-136C>G 3 (0.19) - - (2.5)
25 Hb Lepore β0 NG_000007.3:g.63564_70978del 3 (0.19) - - (9.38)
26 CAP+1 (A>C) β++ (silent) HBB:c.-50A>C 3 (0.19) - (3)
27 CD126 (GTG>GGG) β++ (silent) Hb Neapolis 2 (0.13) -
28 CD69 (GGT>AGT) Hb City of Hope silent Hb variant HBB: c.208G>A 2 (0.13)
29 CAP + 1570 T>C β++ (silent) HBB:c.*96T>C 2 (0.13) (0.3)
30 CD16(-C) β0 HBB:c.51delC 2 (0.13) (0.3) (0.9) (2.5) 7(9.31) (0.7)
31 Deletion from HBD exon 1 to HBB promoter β0 2 (0.13)
32 619 bp deletion β0 NG_000007.3: g.71609_72227del619 1 (0.06) 5.3
33 Deletion from up HBBP1-Exon3 HBBP1 and up HBB-0.5Kb down HBB β0 1(0.06)
34 CAP+8 C>A β++ (silent) HBB:c.-43C>T 1 (0.06)
35 CD37(G>A) β0 HBB:c.114G>A 1 (0.06) 0.5
36 CD6(-A) β0 HBB:c.20delA 1 (0.06)
37 IVS-I-2 (T>C) β0 HBB:c.92+2T>C 1 (0.06) 2 1(1.33)
38 IVS-II-705 T>G β+ HBB:c.316-146T>G 1 (0.06)
39 IVSII-772 (G>A) unknown HBB:c.316-78A>G 1 (0.06)
40 Unknown 2 (0.13) 40 (10.3) 10 (13.3)
Total 305 (19.79)
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