Hereditas 81: 63-68
(1975)
Population studies in northern Sweden VII. Serum transferrin variants as markers of Finnish admixture G. BECKMAN, L. BECKMAN, B. CEDERGREN and I. NORDENSON Department of Medical Genetics and University Hospital Blood Center, University of Umed, Sweden
BECKMAN, G., BECKMAN, L., CEDERGREN, B. and NORDENSON, I. 1975. Population studies in northern Sweden. VII. Serum transferrin variants as markers of Finnish admixture. - Hereditas 81: 63-68. Lund, Sweden. ISSN 0018-0661. Received July 3, 1975 Electrophoretic variants of serum transferrin were studied in a series of 4400 individuals from northern Sweden. The individuals were distributed according to place of birth into 23 subpopula~ ) found. A significant tions. Five different transferrin variants (Bo, Bo-1, B2, Dclli and D F ~were regional variation was found for two variants (Bo-1 and &hi), which show a relatively high frequency in Finland. The highest frequencies of these variants were found in parishes located along the Finnish border. Using the Bo-1 and Dchi variants as markers, the Finnish admixture in these parishes was estimated to about 70 per cent. The Bo-1 and Dchi variants appear to have been introduced into Sweden by different historical migrations. Gunhild Beckman, Department of Medical Genetics, University uf Umeri, S-901 87 Umed, Sweden
Since the first discovery of electrophoretic varia- Materials and methods tion in human serum transferrin by SMITHIES (1957) a large number of genetic transferrin Serum samples were collected from 4406 convariants have been described. A comprehensive scripts and blood donors born in the counties of review of this work has been published by GIBLETT Norrbotten and Vasterbotten, which are the two (1959). In Sweden frequencies of transferrin northernmost counties of Sweden. The county of variants have been studied in Lapps and in differ- Norrbotten borders in its northeastern part to ent areas by BECKMAN and HOLMGREN (1961) and northern Finland. The individuals were distributBECKMAN et al. (1963). SEPPALA (1965) and ed according to their place of birth into 23 regions NEVANLINNA (1 972) have examined frequencies of consisting of one parish or a group of parishes. transferrin variants in different areas of Finland. The parishes entering into each region and the (1972) has studied transferrin variants locations of the regions are shown in Table 1 and TEISBERG Fig. 1. in Norway. Routine screening was performed by horisontal In Finland the frequencies of the Bo-l and Dchi genes were found to be higher and that of the Bz electrophoresis in polyacrylamide slabs using the discontinous buffer system by ASHTON and gene lower than in Sweden. (1961). Reference samples were provided We have studied transferrin variants in the BRADEN populatiob of northern Sweden in an attempt to by Dr. G . Holmgren. The reference samples for Dchi and DFin variants were originally explore the usefulness of these variants as markers the of Finnish admixture. In a previous investigation from the laboratory of Dr. M. Seppala. Phenofrom this laboratory we have reported one good types other than C found in the screening procemarker of Finnish admixture viz. the superoxide dure were checked against reference samples in polyacrylamide and starch gel electrophoresis. 1973). dismutase gene SOD2 (BECKMAN 5
Hewditas 81, 1975
64
G. BECKMAN, L. BECKMAN, B. CEDERGREN AND I. NORDENSON
The classification of phenotypes used in this paper means that the type observed is indistinguishable from a given reference sample.
Tabfe 1. Regional subdivision of parishes The locations of the regions are shown in Fig. 1 Region 1
2 3 4 5 6 7 8 9 10 11
12 13 14 15 16 17 18 19 20 21 22 23 .
Parishes
Dorotea, Fredrika, Asele Vilhelmina Stensele Sorsele, Tarna Lycksele, drtrlsk Mall, Norsjo Byske, Jorn Burei, Mvinger, Skellefteh Burtrask Degerfors Bygdei, Nysatra Holmsund, Holmon, Savar, U m e l Bjurholm, Vannas Hornefors, Nordmaling Arjeplog, Arvidsjaur Gallivare, Jokkmokk Jukkasjarvi, Karesuando Pitei, Alvsbyn Nederlulei Edefors, (fverlulei Nederkalix, RlneP, Tore, dverkalix Hietaniemi, Karl Gustav, Nedertornei, dvertorneh Junosuando, Korpilombolo, Pajala, Tarendo
Table 2 shows the transferrin phenotypes observed among 4406 individuals from northern Sweden. Five variants were found; Bo, Bo-l, Bz, D C h i and D F i n . They were all found in heterozygous combination with the common variant C. Table 3 shows the distribution of transferrin types in Sweden and Finland. The Bo and D ~ i variants n are too infrequent to allow a statistical analysis. These variants were found in Norrbotten county. The B, variant was also found to be infrequent in northern Sweden. The frequencies of the Bz gene in northern Sweden (counties of Norrbotten and Vasterbotten) and in Finland were found to be significantly lower (P< 0.001) than that in Central and South Sweden,
Table 2. Transferrin phenotypes found among 4406 individuals from northern Sweden The locations ofthe 23 regions are shown in Fig 1 Regions 1-14= county and regions 15-23= Norrbotten county Region
BoC
Bo.iC
BzC
CDchi
CDF~, C
Vasterbotten Number examined
____
1 2 3 4 5 6 7 8 9 11 12 13 14 15 16 17 18 19 20 21 22 23
0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0
Total
2
10
Hereditas 81, I975
1 1 0
0 0 0 0 0 0 0 0 0 0 0
4 2
0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 1 0 0 0 0 0
15
4
0
0 0 0 1 0
0 0 0 0 0 1
2 1 0 1 0
1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
119 96 73 82 153 111 76 332 100 147 189 606 159 118 126 292 187
1 3 3
0 0 0 0 0 0
118 95 73 82 153 111 76 331 100 147 188 603 159 118 123 288 181 306 240 217 296 185 174
20
1
4364
4406
I 0 0
1 2 3 4 1 1
1
31 I 242 218 298 192 179
POPULATION STUDIES IN NORTHERN SWEDEN vn
65
Table 3. Distribution of transferrin phenotypes in Sweden and Finland Population
Transferrin phenotype
Norrbotten county
2010
2
0
12
0
1
19
0
Vasterbotten county 2354
0
0
3
0
3
1
Central and south Sweden Finland
1484
0
0
2
0
17
3719
0
0
69
0
Finland
5292
0
1
126
1
while there was no significant difference between Finland and northern Sweden. Two of the transferrin variants and &hi) were found in a frequency high enough to allow a more detailed analysis of the regional variations. The frequency of the Bo-l gene in Norrbotten
Total
References
1
2045
0
0
2361
0
3
0
1506
This investigation This investigation BECKMAN et al. 1963
9
90
0
6
3893
10
100
0
6
5536
SEPPALA 1965 NEVANLINNA 1972
county was significantly higher than that in Vasterbotten county and in Central and South Sweden (P< 0.05), but significantly lower than that in Finland (P
(1975)
Population studies in northern Sweden VII. Serum transferrin variants as markers of Finnish admixture G. BECKMAN, L. BECKMAN, B. CEDERGREN and I. NORDENSON Department of Medical Genetics and University Hospital Blood Center, University of Umed, Sweden
BECKMAN, G., BECKMAN, L., CEDERGREN, B. and NORDENSON, I. 1975. Population studies in northern Sweden. VII. Serum transferrin variants as markers of Finnish admixture. - Hereditas 81: 63-68. Lund, Sweden. ISSN 0018-0661. Received July 3, 1975 Electrophoretic variants of serum transferrin were studied in a series of 4400 individuals from northern Sweden. The individuals were distributed according to place of birth into 23 subpopula~ ) found. A significant tions. Five different transferrin variants (Bo, Bo-1, B2, Dclli and D F ~were regional variation was found for two variants (Bo-1 and &hi), which show a relatively high frequency in Finland. The highest frequencies of these variants were found in parishes located along the Finnish border. Using the Bo-1 and Dchi variants as markers, the Finnish admixture in these parishes was estimated to about 70 per cent. The Bo-1 and Dchi variants appear to have been introduced into Sweden by different historical migrations. Gunhild Beckman, Department of Medical Genetics, University uf Umeri, S-901 87 Umed, Sweden
Since the first discovery of electrophoretic varia- Materials and methods tion in human serum transferrin by SMITHIES (1957) a large number of genetic transferrin Serum samples were collected from 4406 convariants have been described. A comprehensive scripts and blood donors born in the counties of review of this work has been published by GIBLETT Norrbotten and Vasterbotten, which are the two (1959). In Sweden frequencies of transferrin northernmost counties of Sweden. The county of variants have been studied in Lapps and in differ- Norrbotten borders in its northeastern part to ent areas by BECKMAN and HOLMGREN (1961) and northern Finland. The individuals were distributBECKMAN et al. (1963). SEPPALA (1965) and ed according to their place of birth into 23 regions NEVANLINNA (1 972) have examined frequencies of consisting of one parish or a group of parishes. transferrin variants in different areas of Finland. The parishes entering into each region and the (1972) has studied transferrin variants locations of the regions are shown in Table 1 and TEISBERG Fig. 1. in Norway. Routine screening was performed by horisontal In Finland the frequencies of the Bo-l and Dchi genes were found to be higher and that of the Bz electrophoresis in polyacrylamide slabs using the discontinous buffer system by ASHTON and gene lower than in Sweden. (1961). Reference samples were provided We have studied transferrin variants in the BRADEN populatiob of northern Sweden in an attempt to by Dr. G . Holmgren. The reference samples for Dchi and DFin variants were originally explore the usefulness of these variants as markers the of Finnish admixture. In a previous investigation from the laboratory of Dr. M. Seppala. Phenofrom this laboratory we have reported one good types other than C found in the screening procemarker of Finnish admixture viz. the superoxide dure were checked against reference samples in polyacrylamide and starch gel electrophoresis. 1973). dismutase gene SOD2 (BECKMAN 5
Hewditas 81, 1975
64
G. BECKMAN, L. BECKMAN, B. CEDERGREN AND I. NORDENSON
The classification of phenotypes used in this paper means that the type observed is indistinguishable from a given reference sample.
Tabfe 1. Regional subdivision of parishes The locations of the regions are shown in Fig. 1 Region 1
2 3 4 5 6 7 8 9 10 11
12 13 14 15 16 17 18 19 20 21 22 23 .
Parishes
Dorotea, Fredrika, Asele Vilhelmina Stensele Sorsele, Tarna Lycksele, drtrlsk Mall, Norsjo Byske, Jorn Burei, Mvinger, Skellefteh Burtrask Degerfors Bygdei, Nysatra Holmsund, Holmon, Savar, U m e l Bjurholm, Vannas Hornefors, Nordmaling Arjeplog, Arvidsjaur Gallivare, Jokkmokk Jukkasjarvi, Karesuando Pitei, Alvsbyn Nederlulei Edefors, (fverlulei Nederkalix, RlneP, Tore, dverkalix Hietaniemi, Karl Gustav, Nedertornei, dvertorneh Junosuando, Korpilombolo, Pajala, Tarendo
Table 2 shows the transferrin phenotypes observed among 4406 individuals from northern Sweden. Five variants were found; Bo, Bo-l, Bz, D C h i and D F i n . They were all found in heterozygous combination with the common variant C. Table 3 shows the distribution of transferrin types in Sweden and Finland. The Bo and D ~ i variants n are too infrequent to allow a statistical analysis. These variants were found in Norrbotten county. The B, variant was also found to be infrequent in northern Sweden. The frequencies of the Bz gene in northern Sweden (counties of Norrbotten and Vasterbotten) and in Finland were found to be significantly lower (P< 0.001) than that in Central and South Sweden,
Table 2. Transferrin phenotypes found among 4406 individuals from northern Sweden The locations ofthe 23 regions are shown in Fig 1 Regions 1-14= county and regions 15-23= Norrbotten county Region
BoC
Bo.iC
BzC
CDchi
CDF~, C
Vasterbotten Number examined
____
1 2 3 4 5 6 7 8 9 11 12 13 14 15 16 17 18 19 20 21 22 23
0 0 0 0 0 0 0 0 0 0 0 0 0 0 1 0 1 0 0 0 0 0 0
Total
2
10
Hereditas 81, I975
1 1 0
0 0 0 0 0 0 0 0 0 0 0
4 2
0 0 0 0 0 0 0 0 0 0 1 2 0 0 0 0 0 1 0 0 0 0 0
15
4
0
0 0 0 1 0
0 0 0 0 0 1
2 1 0 1 0
1
0 0 0 0 0 0 0 0 0 0 0 0 0 0 0 0
119 96 73 82 153 111 76 332 100 147 189 606 159 118 126 292 187
1 3 3
0 0 0 0 0 0
118 95 73 82 153 111 76 331 100 147 188 603 159 118 123 288 181 306 240 217 296 185 174
20
1
4364
4406
I 0 0
1 2 3 4 1 1
1
31 I 242 218 298 192 179
POPULATION STUDIES IN NORTHERN SWEDEN vn
65
Table 3. Distribution of transferrin phenotypes in Sweden and Finland Population
Transferrin phenotype
Norrbotten county
2010
2
0
12
0
1
19
0
Vasterbotten county 2354
0
0
3
0
3
1
Central and south Sweden Finland
1484
0
0
2
0
17
3719
0
0
69
0
Finland
5292
0
1
126
1
while there was no significant difference between Finland and northern Sweden. Two of the transferrin variants and &hi) were found in a frequency high enough to allow a more detailed analysis of the regional variations. The frequency of the Bo-l gene in Norrbotten
Total
References
1
2045
0
0
2361
0
3
0
1506
This investigation This investigation BECKMAN et al. 1963
9
90
0
6
3893
10
100
0
6
5536
SEPPALA 1965 NEVANLINNA 1972
county was significantly higher than that in Vasterbotten county and in Central and South Sweden (P< 0.05), but significantly lower than that in Finland (P
