| Id |
Subject |
Object |
Predicate |
Lexical cue |
| TextSentencer_T1 |
0-150 |
Sentence |
denotes |
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. |
| TextSentencer_T2 |
151-258 |
Sentence |
denotes |
The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. |
| TextSentencer_T3 |
259-444 |
Sentence |
denotes |
An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexosaminidase A (Hex A) alpha-subunit. |
| TextSentencer_T4 |
445-569 |
Sentence |
denotes |
Sequencing of amplified cDNA fragments revealed a single alteration, guanine to adenine at nt 749 creating a G250D mutation. |
| TextSentencer_T5 |
570-807 |
Sentence |
denotes |
The mutation introduces a new recognition site for the restriction enzyme Eco RV, permitting identification of heterozygotes for this allele following PCR amplification and Eco RV digestion of exon 7 sequences from genomic DNA templates. |
| TextSentencer_T6 |
808-1042 |
Sentence |
denotes |
In order to test the effect of this substitution, an in vitro mutagenized cDNA construct was introduced into a mammalian expression vector and transfected into monkey Cos-1 cells separately or along with a beta-cDNA expression vector. |
| TextSentencer_T7 |
1043-1184 |
Sentence |
denotes |
When the mutant alpha-cDNA was the only gene introduced into COS cells no enzymatic activity above endogenous COS cell activity was detected. |
| TextSentencer_T8 |
1185-1389 |
Sentence |
denotes |
Cotransfection of normal alpha-cDNA and beta-cDNA followed by immunoprecipitation of human Hex A resulted in 20-fold increase in the ratio between positive and negative (mock transfection) control values. |
| TextSentencer_T9 |
1390-1535 |
Sentence |
denotes |
This allowed the detection of some residual activity (12% of the positive control) when the mutant alpha-cDNA replaced its wild-type counterpart. |
| TextSentencer_T10 |
1536-1746 |
Sentence |
denotes |
The predicted protein environment in which the mutation occurs is compared to that of the adult-onset Tay-Sachs disease mutation caused by a Gly269-->Ser substitution in exon 7.(ABSTRACT TRUNCATED AT 250 WORDS) |
| T1 |
0-150 |
Sentence |
denotes |
A glycine250--> aspartate substitution in the alpha-subunit of hexosaminidase A causes juvenile-onset Tay-Sachs disease in a Lebanese-Canadian family. |
| T2 |
151-258 |
Sentence |
denotes |
The mutation causing juvenile Tay-Sachs disease (TSD) in two sibs of Lebanese-Maronite origin is described. |
| T3 |
259-444 |
Sentence |
denotes |
An mRNA-containing extract of cultured fibroblasts obtained from one of the probands was used as a template to amplify the coding sequence of the hexosaminidase A (Hex A) alpha-subunit. |
| T4 |
445-569 |
Sentence |
denotes |
Sequencing of amplified cDNA fragments revealed a single alteration, guanine to adenine at nt 749 creating a G250D mutation. |
| T5 |
570-807 |
Sentence |
denotes |
The mutation introduces a new recognition site for the restriction enzyme Eco RV, permitting identification of heterozygotes for this allele following PCR amplification and Eco RV digestion of exon 7 sequences from genomic DNA templates. |
| T6 |
808-1042 |
Sentence |
denotes |
In order to test the effect of this substitution, an in vitro mutagenized cDNA construct was introduced into a mammalian expression vector and transfected into monkey Cos-1 cells separately or along with a beta-cDNA expression vector. |
| T7 |
1043-1184 |
Sentence |
denotes |
When the mutant alpha-cDNA was the only gene introduced into COS cells no enzymatic activity above endogenous COS cell activity was detected. |
| T8 |
1185-1389 |
Sentence |
denotes |
Cotransfection of normal alpha-cDNA and beta-cDNA followed by immunoprecipitation of human Hex A resulted in 20-fold increase in the ratio between positive and negative (mock transfection) control values. |
| T9 |
1390-1535 |
Sentence |
denotes |
This allowed the detection of some residual activity (12% of the positive control) when the mutant alpha-cDNA replaced its wild-type counterpart. |
| T10 |
1536-1746 |
Sentence |
denotes |
The predicted protein environment in which the mutation occurs is compared to that of the adult-onset Tay-Sachs disease mutation caused by a Gly269-->Ser substitution in exon 7.(ABSTRACT TRUNCATED AT 250 WORDS) |
