PRENATAL-DIAGNOSIS USING DNA POLYMORPHISMS - REPORT ON 95 PREGNANCIES AT RISK FOR SICKLE-CELL DISEASE OR BETA-THALASSEMIA

被引：136
作者：
BOEHM, CD
ANTONARAKIS, SE
PHILLIPS, JA
STETTEN, G
KAZAZIAN, HH
机构：
[1] JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA
[2] JOHNS HOPKINS UNIV, SCH MED, DEPT GYNECOL OBSTET, BALTIMORE, MD 21205 USA
来源：
NEW ENGLAND JOURNAL OF MEDICINE | 1983年 / 308卷 / 18期
关键词：
D O I：
10.1056/NEJM198305053081803
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：1054 / 1058
页数：5
相关论文
共 45 条
[1]   PRENATAL DIAGNOSIS OF HEMOGLOBINOPATHIES - REVIEW OF 15 CASES [J].
ALTER, BP ;
MODELL, CB ;
FAIRWEATHER, D ;
HOBBINS, JC ;
MAHONEY, MJ ;
FRIGOLETTO, FD ;
SHERMAN, AS ;
NATHAN, DG .
NEW ENGLAND JOURNAL OF MEDICINE, 1976, 295 (26) :1437-1443
[2]  
ALTER BP, 1981, LANCET, V2, P1152
[3]  
[Anonymous], 1976, JAMA-J AM MED ASSOC, V236, P1471
[4]   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
[5]   A NUCLEOTIDE CHANGE AT A SPLICE JUNCTION IN THE HUMAN BETA-GLOBIN GENE IS ASSOCIATED WITH BETAO-THALASSEMIA [J].
BAIRD, M ;
DRISCOLL, C ;
SCHREINER, H ;
SCIARRATTA, GV ;
SANSONE, G ;
NIAZI, G ;
RAMIREZ, F ;
BANK, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (07) :4218-4221
[6]   A SENSITIVE NEW PRENATAL TEST FOR SICKLE-CELL-ANEMIA [J].
CHANG, JC ;
KAN, YW .
NEW ENGLAND JOURNAL OF MEDICINE, 1982, 307 (01) :30-32
[7]   BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN [J].
CHANG, JC ;
WAIKAN, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) :2886-2889
[8]  
CHANG JC, 1981, LANCET, V2, P1127
[9]   ABNORMAL SPLICE IN A MUTANT HUMAN BETA-GLOBIN GENE NOT AT THE SITE OF A MUTATION [J].
DOBKIN, C ;
PERGOLIZZI, RG ;
BAHRE, P ;
BANK, A .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (05) :1184-1188
[10]   A NEW POLYMORPHISM IN THE HUMAN BETA-GLOBIN GENE USEFUL IN ANTENATAL DIAGNOSIS [J].
DRISCOLL, MC ;
BAIRD, M ;
BANK, A ;
RACHMILEWITZ, EA .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (04) :915-919
12345