| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-141 |
Sentence |
denotes |
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. |
| TextSentencer_T2 |
142-303 |
Sentence |
denotes |
A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. |
| TextSentencer_T3 |
304-398 |
Sentence |
denotes |
RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. |
| TextSentencer_T4 |
399-572 |
Sentence |
denotes |
A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. |
| TextSentencer_T5 |
573-614 |
Sentence |
denotes |
The fetus was predicted to be unaffected. |
| TextSentencer_T6 |
615-801 |
Sentence |
denotes |
Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. |
| TextSentencer_T7 |
802-1018 |
Sentence |
denotes |
As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. |
| TextSentencer_T8 |
1019-1171 |
Sentence |
denotes |
In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. |
| TextSentencer_T9 |
1172-1257 |
Sentence |
denotes |
This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. |
| TextSentencer_T10 |
1258-1410 |
Sentence |
denotes |
These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. |
| T1 |
0-141 |
Sentence |
denotes |
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosis. |
| T2 |
142-303 |
Sentence |
denotes |
A family with an apparent history of X-linked Pelizaeus-Merzbacher disease presented for genetic counseling, requesting carrier detection and prenatal diagnosis. |
| T3 |
304-398 |
Sentence |
denotes |
RFLP analysis using the proteolipid protein (PLP) gene probe was uninformative in this family. |
| T4 |
399-572 |
Sentence |
denotes |
A prenatal diagnosis on a chorionic villus sample (CVS) was carried out using single-strand conformation polymorphism (SSCP) analysis of a variant in exon 4 of the PLP gene. |
| T5 |
573-614 |
Sentence |
denotes |
The fetus was predicted to be unaffected. |
| T6 |
615-801 |
Sentence |
denotes |
Sequencing of the exon from the CVS, the predicted-carrier mother, and the obligate-carrier grandmother revealed an A-to-C change at nucleotide 541 in the two women but not in the fetus. |
| T7 |
802-1018 |
Sentence |
denotes |
As this change results in a Thr-to-Pro change at amino acid 181 in a region of the gene predicted to be part of a transmembrane segment, it was concluded that this was the mutation causing the disease in this family. |
| T8 |
1019-1171 |
Sentence |
denotes |
In addition, in a second family, an exon 5 variant band pattern on SSCP analysis was shown by sequencing to be due to a T-to-C change at nucleotide 668. |
| T9 |
1172-1257 |
Sentence |
denotes |
This results in a Leu-to-Pro change in a carrier mother and in her two affected sons. |
| T10 |
1258-1410 |
Sentence |
denotes |
These results provide further examples of mutations in PLP that cause Pelizaeus-Merzbacher disease and illustrate the value of SSCP in genetic analysis. |
