Табл. Hb A m
Идентифицированные мутации в гене альфа глобина (HBA1) человека
1) missense мутации
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Кодон :Замена нук-:Замена амино-: Литература :
: леотидов : кислот : :
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-1 ATG-GTG Met-Val Moi
P.,1987
1 GTG-GAG Val-Glu Vasseur
C.,1991
Vasseur
C.,1992
2 CTG-CGG Leu-Arg Zeng
Y.,1984
3 TCT-TTT Ser-Phe Prehu
C.,2001
5 GCT-GAT Ala-Asp Crookston
J.H.,1965
5 GCT-CCT Ala-Pro Ahmad
A.,1986
6 GAC-AAC Asp-Asn Jue
D.L.,1979
Baklouti
F.,1988a
6 GAC-GTC Asp-Val Lee-Potter
J.P.,1981
6 GAC-GCC Asp-Ala Sumida
I.,1973
6 GAC-GGC Asp-Gly Harano
T.,1996
Moo-Penn
W.F.,1987
6 GAC-TAC Asp-Tyr Como
P.F.,1986
7 AAG-AAC Lys-Asn Wajcman
H.,1994a
7 AAG-GAG Lys-Glu Harano
T.,1995a
11 AAG-AAC Lys-Asn Webber
B.B.,1983
11 AAG-GAG Lys-Glu Pootrakul
S.,1975
11 AAG-CAG Lys-Gln Qualtieri
A.,1995
Zeng
Y.,1981
12 GCC-GAC Ala-Asp Molchanova
T.P.,1994a
Niazi
G.A.,1975
Rosa
J.,1966
14 TGG-A(C)GG Trp-Arg Honig
G.R.,1982
Moo-Penn
W.F.,1983
15 GGT-GAT Gly-Asp Harano
K.,1984
Molchanova
T.P.,1994b
15 GGT-CGT Gly-Arg Pootrakul
S.,1974
Vella
F.,1974a
Yodsowan
B.,2000
16 AAG-AAC Lys-Asn Liang
C.C.,1982
16 AAG-ATG Lys-Met Fleming
P.J.,1978
Zeng
Y.,1984
16 AAG-GAG Lys-Glu Murayama
M.,1962
Beale
D.,1965
Schneider
R.G.,1966
18 GGC-CGC Gly-Arg Griffiths
K.D.,1977
Al-Awamy
B.,1985b
Chih-Chuan
L.,1981
18 GGC-GAC Gly-Asp Abbes
S.,1992
19 GCG- Ala-Asp Rahbar
S.,1976
19 GCG-GAG Ala-Glu Houjun
L.,1984
20 CAC-CGC His-Arg Fleming
P.J.,1987
20 CAC-CAA His-Gln Harano
T.,1983b
Malcorra-Azpiazu J.J.,1988
Sellaye
M.,1982
20 CAC-TAC His-Tyr Wajcman
H.,1980
21 GCT-CCT Ala-Pro Wajcman
H.,1989a
21 GCT-GAT Ala-Asp Kendall
A.G.,1973
22 GGC-GAC Gly-Asp Gottlieb
A.J.,1964
23 GAG-AAG Glu-Lys Boyer
S.H.,1968
23 GAG-GTG Glu-Val Marengo-Rowe A.J.,1968
23 GAG-CAG Glu-Gln Kraus
A.P.,1965
Kraus
A.P.,1967
Cooper
M.R.,1973
23 GAG-GGG Glu-Gly Bardakdjian-Michau J.,1989
23 GAG-GAC Glu-Asp Wajcman
H.,1994a
24 TAT-TGT Tyr-Cys Pobedimskaya D.D.,1994a
24 TAT-CAT Tyr-His Groff
P.,1989
26 GCG-GAG Ala-Glu Zeng
Y.,1982
27 GAG-GAT Glu-Asp Harano
T.,1988
Zhao
W.,1990
27 GAG-GGG Glu-Gly Carstairs
K.C.,1985
Schneider
R.G.,1971
27 GAG-AAG Glu-Lys Liang
C.,1981
27 GAG-GGG Glu-Val Cash
F.E.,1989
30 GAG-CAG Glu-Gln Vettore
L.,1974
Kilinc
Y.,1985
Martin
G.,1990
Schnedl
W.J.,1997
30 GAG-AAG Glu-Lys Kilinc
Y.,1985
Vettore
L.,1974
31 AGG-AGC Arg-Ser De Marco
E.V.,1992
Marinucci
M.,1979
34 CTG-CGG Leu-Arg Moo-Penn
W.F.,1982
Sugihara
J.,1982
Yongsuwan S.,1987
37 CCC-CGC Pro-Arg Dahmane-Arbane M.,1987
40 AAG-GAG Lys-Glu Harano
T.,1983c
Imai
K.,1989
40 AAG-ATG Lys-Met Miyashita
H.,1992
41 ACC-TCC(AGC) Thr-Ser Ohba
Y.,1989
43 TTC-CTC Phe-Leu Ohba
Y.,1975
43 TTC-GTC Phe-Val Beretta
A.,1968
44 CCG-CGG Pro-Arg Harano
T.,1982b
44 CCG-CTG Pro-Leu Honig
G.R.,1990
45 CAC-CAA His-Gln Marinucci
M.,1980
45 CAC-GAC His-Asp Bardakdjian
J.,1994
45 CAC-CGC His-Arg Braconnier
F.,1977
Cash
F.E.,1989
45 CAC-CCC His-Pro Hamaguchi
K.,1998
47 GAC-AAC Asp-Asn Rahbar
S.,1975
47 GAC-GCC Asp-Ala Nakatsuji
T.,1984
47 GAC-GGC Asp-Gly Ohba
Y.,1982
49 AGC-AGG Ser-Arg Szelenyi
J.G.,1980
Suarez
C.R.,1985
Ojwang
P.J.,1985
Juricic
D.,1985
50 CAC-CGC His-Arg Harano
T.,1984
Baudin
V.,1987
51 GGC-GAC Gly-Asp Cabannes
R.,1972
51 GGC-CGC Gly-Arg Reynolds
C.A.,1966
53 GCC-GAC Ala-Asp Alberti
R.,1974
Moo-Penn
W.F.,1978
54 CAG-GAG Gln-Glu Labie
D.,1966
54 CAG-CGG Gln-Arg Yamaoka
K.,1960
Hanada
K.,1964a
55 GTT-CTT Val-Leu Prehu
C.,1999
56 AAG-GAG Lys-Glu Abramov
A.,1980
56 AAG-ACG Lys-Thr Pootrakul
S.,1977
56 AAG-AAC Lys-Asn Wajcman
H.,1990b
56 AAG-ACG Lys-Arg Zwerdling T.,1991
57 GGC-CGC Gly-Arg Rahbar
S.,1969
57 GGC-GAC Gly-Asp Ager
J.A.M.,1958
Baglioni
C.,1962
Huntsman
R.G.,1963
Hanada
K.,1964b
Imamura
T.,1966
Lehmann
H.,1969
58 CAC-CCC His-Tyr Gerald
P.S.,1957
Gerald
P.S.,1961
Hansen
H.A.,1960
Betke
K.,1962
Hayashi
A.,1964
Shimizu
A.,1965
Suzuki
T.,1965
Hollan
S.R.,1967
Pulsinelli
P.D.,1973
58 CAC-CAA His-Gln Lacan
P.,1999
59 GGC-GTC Gly-Val Nakatsuji
T.,1981
59 GGC-GAC Gly-Asp Curuk
M.A.,1992
60 AAG-GAG Lys-Glu Spivak
V.A.,1981
Lacambw C.,1987
60 AAG-AAC Lys-Asn Barclay
G.P.T.,1969
Brimhall
B.,1974
61 AAG-ACG Lys-Thr Giordano
P.C.,1990
63 GCC-GAC Ala-Asp Gonzalez
Redondo J.M.,1987
Thillet
J.,1977
64 GAC-CAC Asp-His Molchanova
T.P.,1994a
Schmidt
R.M.,1976
Sukumaran
P.K.,1972
64 GAC-AAC Asp-Asn Blackwell
R.Q.,1973
Bunn
H.F.,1978
64 GAC-GGC Asp-Gly Jen
P.C.,1987
Li
H.J.,1990
Zhou
Z.,1987
64 GAC-TAC Asp-Tyr Rahbar
S.,1976
65 GCC-GTC Ala-Val Wajcman
H.,1995
68 AAC-AAG Asn-Lys Molchanova
T.P.,1994a
Yi-Tao Z.,1982
68 AAC-GAC Asn-Asp Bilginer
A.,1984
Cotton
F.,2000
Miyaji
T.,1967
71 GCG-GAG Ala-Glu Colombo
B.,1974
71 GCG-GTG Ala-Val Ferranti
P.,1993
72 CAC-CGC His-Arg De
Weinstein B.I.,1985
Rahbar
S.,1973
72 CAC-TAC His-Tyr Harano
T.,1995b
72 CAC-CAA His-Gln Giordano
P.C.,1996
74 GAC-GGC Asp-Gly Orringer
E.P.,1976
Molchanova
T.P.,1994a
74 GAC-CAC Asp-His Zeng
F.Y.,1992
Blackwell
R.Q.,1970
Iuchi
I.,1978
Lie-Injo
L.E.,1979
Lorkin
P.A.,1970
74 GAC-GCC Asp-Ala Djoumessi
S.,1981
Lu
Y.Q.,1984
74 GAC-AAC Asp-Asn Brimhall
B.,1970
Brimhall
B.,1974
Hollan
S.R.,1972
Mamalaki
A.,1990
75 GAC-GCC Asp-Ala Liang
C.C.,1981
Liang
S.,1988
75 GAC-AAC Asp-Asn Ohba
Y.,1977
75 GAC-GGC Asp-Gly Iuchi
I.,1980
75 GAC-CAC Asp-His Lorkin
P.A.,1970
75 GAC-TAC Asp-Tyr Nakatsuji
T.,1983
76 ATG-ACG Met-Thr Shelton
J.B.,1985
76 ATG-AAG Met-Lys Shibata
S.,1981
77 CCC-CGC Pro-Arg Hattori
Y.,1985
78 AAC-CAC Asn-His Molchanova
T.P.,1994a
78 AAC-GAC Asn-Asp Blackwell
R.Q.,1972
Wong
S.C.,1984
78 AAC-AAG Asn-Lys Costa
F.F.,1991
North
M.L.,1980
Rhoda M.D.,1983
Van Ros
G.,1968
79 GCG-GGG Ala-Gly Blackwell
R.Q.,1972
Wong
S.C.,1984
79 GCG-ACG Ala-Thr Wajcman
H.,1995
80 CTG-CGG Leu-Arg Adams
J.G.,1972
Adams
J.G.,1974
81 TCC-TGC Ser-Cys Honig
G.R.,1978
82 GCC-GAC Ala-Asp Winter W.P.,1978
84 AGC-CGC(AGA) Ser-Arg Crookston
J.H.,1969
Headlee
M.G.,1983
85 GAC-TAC Asp-Tyr Fujiwara
N.,1971
85 GAC-AAC Asp-Asn Cohen-Solal
M.,1975
Lorkin
P.A.,1975
86 CTG-CGG Leu-Arg Knuth
A.,1979
87 CAC-CGC His-Arg Liu
G.Y.,1983
87 CAC-TAC His-Tyr Horst
J.,1987
Ameri
A.,1999
Magio
A.,1981
Mayne
E.E.,1986
88 GCG-TCG Ala-Ser Baklouti
F.,1988b
89 CAC-CTC His-Leu Williamson
D.,1992
90 AAG-ACG Lys-Thr Molchanova
T.P.,1994a
90 AAG-AAC Lys-Asn Molchanova
T.P.,1994b
Fleming
P.J.,1978
Vella
F.,1970
90 AAG-ATG Lys-Met Harano
T.,1982a
Sugihara
J.,1983
91 CTT-CCT Leu-Pro Brennan
S.O.,1977
92 CGG-CAG Arg-Gln Harano
T.,1983d
Molchanova
T.P.,1994a
92 CGG-CTG Arg-Leu Harano
T.,1983d
92 CGG-TGG Arg-Trp Wajcman
H.,1994b
94 GAC-GGC Asp-Gly Dincol
G.,1994
94 GAC-TAC Asp-Tyr Abdo
M.Z.,1989
Al-Awamy
B.,1985a
Nozari
G.,1977
Wajcman
H.,1972
94 GAC-CAC Asp-His Schroeder
W.A.,1979
94 GAC-AAC Asp-Asn Schneider
R.G.,1975
94 GAC-GAA Asp-Glu Kister
J.,1995
94 GAC-GGC Asp-Gly Kister
J.,1995
95 CCG-CGG Pro-Arg Molchanova
T.P.,1994a
Bannister
W.h.,1972
95 CCG-GCG Pro-Ala Wiltshire B.G.,1972
95 CCG-CTG Pro-Leu Huisman
T.H.J.,1970
95 CCG-TCG Pro-Ser De Jong
W.W.W.,1971
95 CCG-ACG Pro-Thr Wajcman
H.,1998b
97 AAC-AAG Asn-Lys Dysert
P.A.,1982
97 AAC-CAC Asn-His Harano
T.,1995b
99 AAG-GAG Lys-Glu Langdown
J.V.,1992
102 AGC-AGA Ser-Arg Molchanova
T.P.,1994a
Crookston
J.H.,1970
Sciarratta
G.V.,1984
103 CAC-CGC His-Arg Sciarratta
G.V.,1984
103 CAC-CAC His-Tyr Lacan
P.,1999
110 GCC-GAC Ala-Asp Honig
G.R.,1981
110 GCC-ACC Ala-Thr Ohba
Y.,1990
111 GCC-ACC Ala-Thr Wajcman
H.,1995
111 GCC-GTC Ala-Val Kazanetz
E.G.,1995
112 CAC-GAC His-Asp Smith
E.W.,1958
Itano H.A.,1960 ;
Bradley
T.B.,1961 ;
Ostertag
W.,1972 ;
Clegg
J.B.,1978
112 CAC-CGC His-Arg Beksedic
D.,1975 ;
Niazi
G.A.,1975
113 CTC-CCC Leu-His Guis
M.,1985
114 CCC-CGC Pro-Arg Wajcman H.,1993
114 CCC-CTC Pro-Leu Wajcman
H.,1989b
114 CCC-TCC Pro-Ser Wajcman
H.,1993a
115 GCC-GAC Ala-Asp Gajdusek
D.C.,1967
116 GAG-AAG Glu-Lys Molchanova
T.P.,1994a ;
Sansone
G.,1970
116 GAG-CAG Glu-Gln Schneider
R.G.,1980
116 GAG-GCG Glu-Ala Ohba
Y.,1978
120 GCG-GAG Ala-Glu Molchanova
T.P.,1994a ;
Blackwell
R.Q.,1974 ;
Kamuzora
H.,1974
121 GTG-ATG Val-Met Harano
T.,1986
122 CAC-CAA His-Gln Fleming
P.J.,1980 ;
Liang
S.,1988
123 GCC-TCC Ala-Ser Kazanetz
E.G.,1995
126 GAC-CAC Asp-His Bardakdjian-Michau J.,1990 ;
Masala
B.,1987 ;
Paglietti
E.,1998 ;
Sanna M.T.,1994
126 GAC-GTC Asp-Val Hidaka
K.,1990
126 GAC-TAC Asp-Tyr Wajcman
H.,1992a
127 AAG-AAC Lys-Asn Moo-Penn
W.F.,1976
127 AAG-ACG Lys-Thr Vella
F.,1974b
129 CTG-CCG Leu-Pro Darbellay
R.,1995
130 GCT-GAT Ala-Asp Fujisawa
K.,1992
131 TCT-CCT Ser-Pro Wajcman
H.,1993c ;
Wajcman
H.,1990c
132 GTG-GGG Val-Gly Wajcman
H.,1993c
133 AGC-CGC(AGC) Ser-Arg Owen M.C.,1994 ;
Wajcman
H.,1993b
135 GTG-GAG Val-Glu Wajcman
H.,1990a
136 CTG-CCG Leu-Pro Kleihauer E.F.,1968
136 CTG-ATG Leu-Met Bowman
J.E.,1986
136 CTG-CGG Leu-Arg Ohba
Y.,1987
138 TCC-CCC Ser-Pro McDonald
M.J.,1990
139 AAA-ACA Lys-Thr Harano
T.,1983a
140 TAC-CAC Tyr-His Wajcman
H.,1992b ;
Webber
B.B.,1992
141 CGT-CTT Arg-Leu Qin.,1994 ;
Mavilio
F.,1978
141 CGT-GGT Arg-Gly Martinez
G.,1978 ;
Romero
M.J.,1995
141 CGT-AGT Arg-Ser Moo-Penn
W.F.,1981 ;
Saenz
G.F.,1977
141 CGT-TGT Arg-Cys Shimasaki
S.,1985
141 CGT-CCT Arg-Pro Clegg
J.B.,1969
141 CGT-CAT Arg-His Poyart
C.,1976
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2) сплайсинговые мутации
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Интрон: Донор/ :Локали-: Замена : Литература :
:акцепторн.: зация :нуклеот.: :
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1 as - 1 G - A Curuk
M.A.,1993
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3) мелкие делеции
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Кодон :Кол-во нук-:Делетир.нуклеотиды: Литература :
: леотидов : или аминокислоты : :
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37 3 ACC Pobedimskaya D.D.,1994b
38 или 39 - thr Girodon
E.,1992
50 13 GCTCTGCCCAGGT Ayala.,1997
50-57 8 Wajcman
H.,1998a
62 - val Traeger-Synodinos J.,1999
141 - arg Schiliro
G.,1982
24 Wajcman
H.,1998a
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4) крупные делеции
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Кол-во нуклеотидов: Литература :
(kb) : :
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> 62 Hatton C.S.R.,1990
> 39 Shalmon.,1994
33 Hartevald.,1997
> 20 Curuk M.A.,1992
4,2 Liang S.,1988
3,7 Prehu C.,2001
0,24 Wajcman H.,1998a
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5) инсерции
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Экзон:Кодон:Кол-во нук-: Нуклеотиды : Литература :
: : леотидов : : :
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37 3 GAA Moo-Penn W.F.,1989 ;
Virshup D.M.,1988
112 15 CACCTCCCCGCCGAG Wajcman H.,1992c
118 3 ATC Wajcman H.,1997
118-119 Glu Huisman T.H.J.,1974 ;
Cleek
M.P.,1983 ;
Garel
M.C.,1976
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