Abstract
Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the -GAγ- hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the -Gγ-AGγ-Aγ- triplication had polymorphic sites to be expected for this condition, being complimentary to the -GAγ- thalassemias. Of the two additional γ globin gene variations the -Gγ-Gγ- arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the -Aγ-Aγ- arrangement had a haplotype characteristic for that with the AγT mutation, which identified an -Aγ-AγT- arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 669-681 |
| Number of pages | 13 |
| Journal | Biochemical Genetics |
| Volume | 24 |
| Issue number | 9-10 |
| DOIs | |
| State | Published - Oct 1 1986 |
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Keywords
- -γ-γ- and -γ-γ- arrangements
- F-Sardinia
- fetal hemoglobin
- haplotypes
- silent β-chain variant
- the γ chain
- β-thalassemia
- γ globin gene deletion
- γ globin gene triplication
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics
- Biochemistry
- Molecular Biology
- Genetics
Cite this
DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia. / Hattori, Y.; Kutlar, Ferdane; Chen, S. S.; Huisman, T. H.J.; Demuro, P.; Formato, M.; Manca, L.; Masala, B.
In: Biochemical Genetics, Vol. 24, No. 9-10, 01.10.1986, p. 669-681.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - DNA polymorphisms in north Sardinian newborns and their linkage with abnormal γ globin gene arrangements and with βo-thalassemia
AU - Hattori, Y.
AU - Kutlar, Ferdane
AU - Chen, S. S.
AU - Huisman, T. H.J.
AU - Demuro, P.
AU - Formato, M.
AU - Manca, L.
AU - Masala, B.
PY - 1986/10/1
Y1 - 1986/10/1
N2 - Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the -GAγ- hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the -Gγ-AGγ-Aγ- triplication had polymorphic sites to be expected for this condition, being complimentary to the -GAγ- thalassemias. Of the two additional γ globin gene variations the -Gγ-Gγ- arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the -Aγ-Aγ- arrangement had a haplotype characteristic for that with the AγT mutation, which identified an -Aγ-AγT- arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.
AB - Fetal hemoglobin analysis and globin gene mapping have identified one type of βo-thalassemia and four different γ globin gene arrangements among newborn babies from the northern part of Sardinia. The βo-thalassemia with a nonsense mutation at codon 39 was found on two chromosomes, each with a distinct pattern of polymorphic restriction sites; one had the AγT (Aγ75 Ile → Thr) mutation, while the second did not. Four closely related haplotypes were identified for chromosomes with the AγT mutation. The γ-thalassemia heterozygosity with the -GAγ- hybrid gene fell into two categories. One apparently originated through crossing-over between mismatched chromosomes characterized by the most common haplotype, while the other had polymorphisms resembling those of a less frequently occurring chromosome. Chromosomes with the -Gγ-AGγ-Aγ- triplication had polymorphic sites to be expected for this condition, being complimentary to the -GAγ- thalassemias. Of the two additional γ globin gene variations the -Gγ-Gγ- arrangement was associated with the chromosome with the most commonly occurring haplotype, while the chromosome with the -Aγ-Aγ- arrangement had a haplotype characteristic for that with the AγT mutation, which identified an -Aγ-AγT- arrangement. The incidental discovery of a silent β-chain mutant, Hb Hamilton, with the Val → Ile substitution at position β11, in five newborns was also reported.
KW - -γ-γ- and -γ-γ- arrangements
KW - F-Sardinia
KW - fetal hemoglobin
KW - haplotypes
KW - silent β-chain variant
KW - the γ chain
KW - β-thalassemia
KW - γ globin gene deletion
KW - γ globin gene triplication
UR - http://www.scopus.com/inward/record.url?scp=0022496392&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0022496392&partnerID=8YFLogxK
U2 - 10.1007/BF00499001
DO - 10.1007/BF00499001
M3 - Article
C2 - 3778425
AN - SCOPUS:0022496392
VL - 24
SP - 669
EP - 681
JO - Biochemical Genetics
JF - Biochemical Genetics
SN - 0006-2928
IS - 9-10
ER -