TY - JOUR
T1 - Genetic diseases
T2 - Diagnosis by restriction endonuclease analysis
AU - Antonarakis, Stylianos E.
AU - Phillips, John A.
AU - Kazazian, Haig H.
N1 - Funding Information:
From the Department of Pediatrics, Genetics Unit, The Johns Hopkins University School of Medicine. Supported by Grants AM 13983, AM28246, 6-194, of the National Institutes of Health and National Foundation-March of Dimes. Reprint address: Department of Pediatrics, Genetics Unit, CMSC 1004, The Johns Hopkins Hospital, 600 N. Wolfe St.. Baltimore, MD 21205.
PY - 1982/6
Y1 - 1982/6
N2 - We have summarized a number of different genetic disorders which can be diagnosed at the DNA level using restriction endonuclease fragment analysis. A whole spectrum of defects can be recognized: point mutations, deletions, additions, and crossing-over products or hybrid genes. These same restriction endonuclease techniques can enable different genes to be marked by polymorphism patterns. Thus, abnormal genes can be identified even if their exact DNA lesion is unknown or cannot be directly detected. The progress that has been made with the hemoglobinopathies and the experience from this group of single gene disorders should find application to other diseases as soon as specific probes become available.
AB - We have summarized a number of different genetic disorders which can be diagnosed at the DNA level using restriction endonuclease fragment analysis. A whole spectrum of defects can be recognized: point mutations, deletions, additions, and crossing-over products or hybrid genes. These same restriction endonuclease techniques can enable different genes to be marked by polymorphism patterns. Thus, abnormal genes can be identified even if their exact DNA lesion is unknown or cannot be directly detected. The progress that has been made with the hemoglobinopathies and the experience from this group of single gene disorders should find application to other diseases as soon as specific probes become available.
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U2 - 10.1016/S0022-3476(82)80500-3
DO - 10.1016/S0022-3476(82)80500-3
M3 - Article
C2 - 6283049
AN - SCOPUS:0020053072
SN - 0022-3476
VL - 100
SP - 845
EP - 856
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 6
ER -