MOLECULAR HETEROGENEITY OF BETA-THALASSEMIA IN THE ITALIAN POPULATION

被引:7
作者
GIAMPAOLO, A
MAVILIO, F
MASSA, A
GABBIANELLI, M
GUERRIERO, R
SPOSI, NM
CARE, A
CIANCIULLI, P
TENTORI, L
MARINUCCI, M
机构
[1] OSPED S EUGENIO, DIV EMATOL, Rome, ITALY
[2] CNR, IST MED SPERIMENTALE, ROME, ITALY
关键词
D O I
10.1111/j.1365-2141.1984.tb01273.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:79 / 85
页数:7
相关论文
共 14 条
[1]   NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J].
ANTONARAKIS, SE ;
BOEHM, CD ;
GIARDINA, PJV ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01) :137-141
[2]  
Britten R J, 1974, Methods Enzymol, V29, P363
[4]   EVOLUTION OF THE HEMOGLOBIN-S AND HEMOGLOBIN-C GENES IN WORLD POPULATIONS [J].
KAN, YW ;
DOZY, AM .
SCIENCE, 1980, 209 (4454) :388-391
[5]   POLYMORPHISM OF DNA-SEQUENCE IN THE BETA-GLOBIN GENE REGION - APPLICATION TO PRENATAL-DIAGNOSIS OF BETA-0-THALASSEMIA IN SARDINIA [J].
KAN, YW ;
LEE, KY ;
FURBETTA, M ;
ANGIUS, A ;
CAO, A .
NEW ENGLAND JOURNAL OF MEDICINE, 1980, 302 (04) :185-188
[6]   BETA-THALASSEMIA ASSOCIATED WITH INCREASED HB F-PRODUCTION - EVIDENCE FOR THE EXISTENCE OF A HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN (HPFH) DETERMINANT LINKED TO BETA-THALASSEMIA IN A SOUTHERN ITALIAN POPULATION [J].
MARINUCCI, M ;
GABBIANELLI, M ;
ZORINI, CO ;
LAMBERTI, E ;
PALAZZOLO, A ;
LANZO, D .
HEMOGLOBIN, 1981, 5 (01) :1-17
[7]   LINKAGE OF BETA-THALASSEMIA MUTATIONS AND BETA-GLOBIN GENE POLYMORPHISMS WITH DNA POLYMORPHISMS IN HUMAN BETA-GLOBIN GENE-CLUSTER [J].
ORKIN, SH ;
KAZAZIAN, HH ;
ANTONARAKIS, SE ;
GOFF, SC ;
BOEHM, CD ;
SEXTON, JP ;
WABER, PG ;
GIARDINA, PJV .
NATURE, 1982, 296 (5858) :627-631
[8]   PRENATAL-DIAGNOSIS OF SICKLE-CELL-ANEMIA BY RESTRICTION ENDONUCLEASE ANALYSIS - HINDIII POLYMORPHISMS IN GAMMA-GLOBIN GENES EXTEND TEST APPLICABILITY [J].
PHILLIPS, JA ;
PANNY, SR ;
KAZAZIAN, HH ;
BOEHM, CD ;
SCOTT, AF ;
SMITH, KD .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (05) :2853-2856
[9]   DETECTION OF SPECIFIC SEQUENCES AMONG DNA FRAGMENTS SEPARATED BY GEL-ELECTROPHORESIS [J].
SOUTHERN, EM .
JOURNAL OF MOLECULAR BIOLOGY, 1975, 98 (03) :503-+
[10]   BETA-O THALASSEMIA IN SARDINIA IS CAUSED BY A NONSENSE MUTATION [J].
TRECARTIN, RF ;
LIEBHABER, SA ;
CHANG, JC ;
LEE, KY ;
KAN, YW ;
FURBETTA, M ;
ANGIUS, A ;
CAO, A .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (04) :1012-1017