| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-130 |
Sentence |
denotes |
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. |
| TextSentencer_T2 |
131-425 |
Sentence |
denotes |
DNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. |
| TextSentencer_T3 |
426-597 |
Sentence |
denotes |
The complementary DNA (cDNA) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients [Koenig et al., 1987]. |
| TextSentencer_T4 |
598-813 |
Sentence |
denotes |
Two prenatal studies are presented to illustrate how the unambiguous identification of deletion mutations by cDNA probes permits direct DNA-based diagnoses with high accuracy and in otherwise uninformative families. |
| TextSentencer_T5 |
814-998 |
Sentence |
denotes |
In a single proband family, DNA marker analysis had determined that the Xp21 chromosomal region present in the affected male was also carried by a male fetus in a subsequent pregnancy. |
| TextSentencer_T6 |
999-1171 |
Sentence |
denotes |
Analysis of this family's DNA with probes covering the entire 14 kb cDNA revealed a small deletion in the affected male that was not present in the fetus nor in the mother. |
| TextSentencer_T7 |
1172-1294 |
Sentence |
denotes |
In the second family the fetus was a female deletion carrier identified by comparing intensities of restriction fragments. |
| TextSentencer_T8 |
1295-1528 |
Sentence |
denotes |
Since 1/3 of all DMD patients are thought to result from new mutations and most families have only single affected males, the cloned cDNA probes now available are likely to revolutionize DNA-based diagnostic studies in this disorder. |
| TextSentencer_T9 |
1529-1718 |
Sentence |
denotes |
More reliable, more rapid and less expensive than linkage studies with DNA polymorphisms, this method will be informative in the more than 50% of DMD/BMD cases that have deletion mutations. |
| T1 |
0-130 |
Sentence |
denotes |
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. |
| T2 |
131-425 |
Sentence |
denotes |
DNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystrophy (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. |
| T3 |
426-597 |
Sentence |
denotes |
The complementary DNA (cDNA) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients [Koenig et al., 1987]. |
| T4 |
598-813 |
Sentence |
denotes |
Two prenatal studies are presented to illustrate how the unambiguous identification of deletion mutations by cDNA probes permits direct DNA-based diagnoses with high accuracy and in otherwise uninformative families. |
| T5 |
814-998 |
Sentence |
denotes |
In a single proband family, DNA marker analysis had determined that the Xp21 chromosomal region present in the affected male was also carried by a male fetus in a subsequent pregnancy. |
| T6 |
999-1171 |
Sentence |
denotes |
Analysis of this family's DNA with probes covering the entire 14 kb cDNA revealed a small deletion in the affected male that was not present in the fetus nor in the mother. |
| T7 |
1172-1294 |
Sentence |
denotes |
In the second family the fetus was a female deletion carrier identified by comparing intensities of restriction fragments. |
| T8 |
1295-1528 |
Sentence |
denotes |
Since 1/3 of all DMD patients are thought to result from new mutations and most families have only single affected males, the cloned cDNA probes now available are likely to revolutionize DNA-based diagnostic studies in this disorder. |
| T9 |
1529-1718 |
Sentence |
denotes |
More reliable, more rapid and less expensive than linkage studies with DNA polymorphisms, this method will be informative in the more than 50% of DMD/BMD cases that have deletion mutations. |
