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

F.H. Abbasali; K.Sh. Mahmoud; N. Hengameh; D.H. Mina; D. Setare; D.M Hale; D.M. Sima

doi:10.2478/bjmg-2022-0016

Figures & Tables

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.

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.

Sequencing results of rare point mutations: 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.

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)

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

Figures & Tables

Figure 1.

Figure 2.

Figure 3.

Figure 4.

Figure 5.

Distribution of thirty nine rare mutations in Iran and neighboring countries

Paradigm

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