sentence
stringlengths 1
68k
| entities
listlengths 0
637
| dataset
stringclasses 26
values | types
listlengths 1
21
|
|---|---|---|---|
Expressivity of 185delAG in these families varied , from early - onset breast cancer without ovarian cancer .
|
[
{
"name": "breast cancer",
"pos": [
71,
84
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
93,
107
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutation 4184delTCAA occurred independently in two families .
|
[] |
ncbi
|
[
"Disease"
] |
In one family , penetrance was complete , with females developing early - onset breast cancer or ovarian cancer and the male carrier developing prostatic cancer , whereas , in the other family , penetrance was incomplete and only breast cancer occurred , diagnosed at ages 38 - 81 years .
|
[
{
"name": "breast cancer",
"pos": [
80,
93
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
97,
111
],
"type": "Disease"
},
{
"name": "prostatic cancer",
"pos": [
144,
160
],
"type": "Disease"
},
{
"name": "breast cancer",
"pos": [
230,
243
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Two novel nonsense mutations led to the loss of mutant BRCA1 transcript in families with 10 and 6 cases of early - onset breast cancer and ovarian cancer .
|
[
{
"name": "breast cancer",
"pos": [
121,
134
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
139,
153
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A 665 - nt segment of the BRCA1 3 - UTR and 1 .
|
[] |
ncbi
|
[
"Disease"
] |
3 kb of genomic sequence including the putative promoter region were invariant by single - strand conformation analysis in 13 families without coding - sequence mutations .
|
[] |
ncbi
|
[
"Disease"
] |
Overall in our series , BRCA1 mutations have been detected in 26 families 16 with positive BRCA1 lod scores , 7 with negative lod scores ( reflecting multiple sporadic breast cancers ) , and 3 not tested for linkage .
|
[
{
"name": "breast cancers",
"pos": [
168,
182
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Three other families have positive lod scores for linkage to BRCA2 , but 13 families without detected BRCA1 mutations have negative lod scores for both BRCA1 and BRCA2 .
|
[] |
ncbi
|
[
"Disease"
] |
A new glucose - 6 - phosphate dehydrogenase variant , G6PD Orissa ( 44 Ala - - > Gly ) , is the major polymorphic variant in tribal populations in India .
|
[] |
ncbi
|
[
"Disease"
] |
Deficiency of glucose - 6 - phosphate dehydrogenase ( G6PD ) is usually found at high frequencies in areas of the world where malaria has been endemic .
|
[
{
"name": "Deficiency of glucose - 6 - phosphate dehydrogenase",
"pos": [
0,
51
],
"type": "Disease"
},
{
"name": "malaria",
"pos": [
126,
133
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The frequency and genetic basis of G6PD deficiency have been studied in Africa , around the Mediterranean , and in the Far East , but little such information is available about the situation in India .
|
[
{
"name": "G6PD deficiency",
"pos": [
35,
50
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To determine the extent of heterogeneity of G6PD , we have studied several different Indian populations by screening for G6PD deficiency , followed by molecular analysis of deficient alleles .
|
[
{
"name": "G6PD deficiency",
"pos": [
121,
136
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The frequency of G6PD deficiency varies between 3 % and 15 % in different tribal and urban groups .
|
[
{
"name": "G6PD deficiency",
"pos": [
17,
32
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Remarkably , a previously unreported deficient variant , G6PD Orissa ( 44 Ala - - > Gly ) , is responsible for most of the G6PD deficiency in tribal Indian populations but is not found in urban populations , where most of the G6PD deficiency is due to the G6PD Mediterranean ( 188 Ser - - > Phe ) variant .
|
[
{
"name": "G6PD deficiency",
"pos": [
123,
138
],
"type": "Disease"
},
{
"name": "G6PD deficiency",
"pos": [
226,
241
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The KmNADP of G6PD Orissa is fivefold higher than that of the normal enzyme .
|
[] |
ncbi
|
[
"Disease"
] |
This may be due to the fact that the alanine residue that is replaced by glycine is part of a putative coenzyme - binding site . .
|
[] |
ncbi
|
[
"Disease"
] |
Evidence for linkage of bipolar disorder to chromosome 18 with a parent - of - origin effect .
|
[
{
"name": "bipolar disorder",
"pos": [
24,
40
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
A susceptibility gene on chromosome 18 and a parent - of - origin effect have been suggested for bipolar affective disorder ( BPAD ) .
|
[
{
"name": "bipolar affective disorder",
"pos": [
97,
123
],
"type": "Disease"
},
{
"name": "BPAD",
"pos": [
126,
130
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have studied 28 nuclear families selected for apparent unilineal transmission of the BPAD phenotype , by using 31 polymorphic markers spanning chromosome 18 .
|
[
{
"name": "BPAD",
"pos": [
88,
92
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Evidence for linkage was tested with affected - sib - pair and LOD score methods under two definitions of the affected phenotype .
|
[] |
ncbi
|
[
"Disease"
] |
The affected - sibpair analyses indicated excess allele sharing for markers on 18p within the region reported previously .
|
[] |
ncbi
|
[
"Disease"
] |
The greatest sharing was at D18S37 64 % in bipolar and recurrent unipolar ( RUP ) sib pairs ( P = . 0006 ) .
|
[] |
ncbi
|
[
"Disease"
] |
In addition , excess sharing of the paternally , but not maternally , transmitted alleles was observed at three markers on 18q at D18S41 , 51 bipolar and RUP sib pairs were concordant for paternally transmitted alleles , and 21 pairs were discordant ( P = 0004 ) .
|
[] |
ncbi
|
[
"Disease"
] |
The evidence for linkage to loci on both 18p and 18q was strongest in the 11 paternal pedigrees , i .
|
[] |
ncbi
|
[
"Disease"
] |
e e . , those in which the father or one of the fathers sibs is affected .
|
[] |
ncbi
|
[
"Disease"
] |
In these pedigrees , the greatest allele sharing ( 81 % ; P = . 00002 ) and the highest LOD score ( 3 . 51 ; phi = 0 . 0 ) were observed at D18S41 .
|
[] |
ncbi
|
[
"Disease"
] |
Our results provide further support for linkage of BPAD to chromosome 18 and the first molecular evidence for a parent - of - origin effect operating in this disorder .
|
[
{
"name": "BPAD",
"pos": [
51,
55
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The number of loci involved , and their precise location , require further study
|
[] |
ncbi
|
[
"Disease"
] |
A prevalent mutation for galactosemia among black Americans .
|
[
{
"name": "galactosemia",
"pos": [
25,
37
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
OBJECTIVE To define the mutation causing galactosemia in patients of black American origin who have no galactose - 1 - phosphate uridyltransferase ( GALT ) activity in erythrocytes but good clinical outcome .
|
[
{
"name": "galactosemia",
"pos": [
41,
53
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
METHODS We discovered a mutation caused by a C - - > T transition at base - pair 1158 of the GALT gene that results in a serine - to - leucine substitution at codon 135 ( S135L ) .
|
[] |
ncbi
|
[
"Disease"
] |
We developed a method with which to screen populations for its prevalence .
|
[] |
ncbi
|
[
"Disease"
] |
We compared galactose - 1 - phosphate uridyltransferase among erythrocytes , leukocytes , and transformed lymphoblasts , as well as total body oxidation of D - ( 13C ) - galactose to 13CO2 among three genotypes for GALT ( S135L / S135L , Q188R / Q188R , and Normal / Normal ) .
|
[] |
ncbi
|
[
"Disease"
] |
RESULTS We found a 48 % prevalence of the S135L mutation among 17 black American patients with classic galactosemia and a 1 % prevalence in a population of 50 black Americans without galactosemia .
|
[
{
"name": "classic galactosemia",
"pos": [
95,
115
],
"type": "Disease"
},
{
"name": "galactosemia",
"pos": [
183,
195
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The S135L mutation was not found in 84 white patients with G / G galactosemia nor in 87 white control subjects without galactosemia .
|
[
{
"name": "galactosemia",
"pos": [
65,
77
],
"type": "Disease"
},
{
"name": "galactosemia",
"pos": [
119,
131
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We found normal whole body oxidation of D - ( 13C ) - galactose by the patient homozygous for S135L and various degrees of enzyme impairment among different tissues .
|
[] |
ncbi
|
[
"Disease"
] |
CONCLUSIONS The S135L mutation in the GALT gene is a prevalent cause of galactosemia among black patients .
|
[
{
"name": "galactosemia",
"pos": [
72,
84
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Because GALT activity varies in different tissues of patients homozygous for S135L , they may have a better clinical outcome than patients who are homozygous for Q188R when both are treated from infancy . .
|
[] |
ncbi
|
[
"Disease"
] |
A high incidence of BRCA1 mutations in 20 breast - ovarian cancer families .
|
[
{
"name": "breast - ovarian cancer",
"pos": [
42,
65
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have analyzed 20 breast - ovarian cancer families , the majority of which show positive evidence of linkage to chromosome 17q12 for germ - line mutations in the BRCA1 gene .
|
[
{
"name": "breast - ovarian cancer",
"pos": [
20,
43
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
BRCA1 mutations cosegregating with breast and ovarian cancer susceptibility were identified in 16 families , including 1 family with a case of male breast cancer .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
35,
60
],
"type": "Disease"
},
{
"name": "male breast cancer",
"pos": [
143,
161
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Nine of these mutations have not been reported previously .
|
[] |
ncbi
|
[
"Disease"
] |
The majority of mutations were found to generate a premature stop codon leading to the formation of a truncated BRCA1 protein of 2 % - 88 % of the expected normal length .
|
[] |
ncbi
|
[
"Disease"
] |
Two mutations altered the RING finger domain .
|
[] |
ncbi
|
[
"Disease"
] |
Sequencing of genomic DNA led to the identification of a mutation in the coding region of BRCA1 in 12 families , and cDNA analysis revealed an abnormal or missing BRCA1 transcript in 4 of the 8 remaining families .
|
[] |
ncbi
|
[
"Disease"
] |
A total of eight mutations were associated with a reduced quantity of BRCA1 transcript .
|
[] |
ncbi
|
[
"Disease"
] |
We were unable to detect BRCA1 mutations in 4 of the 20 families , but only 1 of these was clearly linked to BRCA1 .
|
[] |
ncbi
|
[
"Disease"
] |
It is expected that the majority of clear examples of the breast - ovarian syndrome will be associated with germ - line mutations in the coding region of BRCA1 . .
|
[
{
"name": "breast - ovarian syndrome",
"pos": [
58,
83
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities .
|
[
{
"name": "Brca1 deficiency",
"pos": [
0,
16
],
"type": "Disease"
},
{
"name": "embryonic lethality",
"pos": [
34,
53
],
"type": "Disease"
},
{
"name": "neuroepithelial abnormalities",
"pos": [
71,
100
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The breast and ovarian cancer susceptibility gene , BRCA1 , has been cloned and shown to encode a zinc - finger protein of unknown function .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
4,
29
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Mutations in BRCA1 account for at least 80 % of families with both breast and ovarian cancer , as well as some non - familial sporadic ovarian cancers .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
67,
92
],
"type": "Disease"
},
{
"name": "ovarian cancers",
"pos": [
135,
150
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The loss of wild - type BRCA1 in tumours of individuals carrying one nonfunctional BRCA1 allele suggests that BRCA1 encodes a tumour suppressor that may inhibit the proliferation of mammary epithelial cells .
|
[
{
"name": "tumours",
"pos": [
33,
40
],
"type": "Disease"
},
{
"name": "tumour",
"pos": [
126,
132
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To examine the role of BRCA1 in normal tissue growth and differentiation , and to generate a potential model for the cancer susceptibility associated with loss of BRCA1 function , we have created a mouse line carrying a mutation in one Brca1 allele .
|
[
{
"name": "cancer",
"pos": [
117,
123
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Analysis of mice homozygous for the mutant allele indicate that Brca1 is critical for normal development , as these mice died in utero between 10 and 13 days of gestation ( E10 - E13 ) .
|
[] |
ncbi
|
[
"Disease"
] |
Abnormalities in Brca1 - deficient embryos were most evident in the neural tube , with 40 % of the embryos presenting with varying degrees of spina bifida and anencephaly .
|
[
{
"name": "Brca1 - deficient",
"pos": [
17,
34
],
"type": "Disease"
},
{
"name": "spina bifida",
"pos": [
142,
154
],
"type": "Disease"
},
{
"name": "anencephaly",
"pos": [
159,
170
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
In addition , the neuroepithelium in Brca1 - deficient embryos appeared disorganized , with signs of both rapid proliferation and excessive cell death . .
|
[
{
"name": "Brca1 - deficient",
"pos": [
37,
54
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Identification of mutations in the ALD - gene of 20 families with adrenoleukodystrophy / adrenomyeloneuropathy .
|
[
{
"name": "adrenoleukodystrophy",
"pos": [
66,
86
],
"type": "Disease"
},
{
"name": "adrenomyeloneuropathy",
"pos": [
89,
110
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Adrenoleukodystrophy ( ALD ) , an X - linked inherited metabolic disorder , is the most frequent inborn peroxisomal disease .
|
[
{
"name": "Adrenoleukodystrophy",
"pos": [
0,
20
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
23,
26
],
"type": "Disease"
},
{
"name": "X - linked inherited metabolic disorder",
"pos": [
34,
73
],
"type": "Disease"
},
{
"name": "inborn peroxisomal disease",
"pos": [
97,
123
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
It leads to demyelination in the central and peripheral nervous system .
|
[
{
"name": "demyelination in the central and peripheral nervous system",
"pos": [
12,
70
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Defective beta - oxidation of saturated very long chain fatty acids ( VLCFAs ; C22 0 - C26 0 ) in peroxisomes has been shown to lead to an accumulation of VLCFAs in leukoid areas of the central nervous system , peripheral nerves , adrenal gland , and blood .
|
[] |
ncbi
|
[
"Disease"
] |
The ALD gene has been recently identified and encodes a 745 - amino - acid protein .
|
[
{
"name": "ALD",
"pos": [
4,
7
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We screened patients with adrenoleukodystrophy / adrenomyeloneuropathy ( ALD / AMN ) from 20 kindreds for mutations in the ALD gene .
|
[
{
"name": "adrenoleukodystrophy",
"pos": [
26,
46
],
"type": "Disease"
},
{
"name": "adrenomyeloneuropathy",
"pos": [
49,
70
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
73,
76
],
"type": "Disease"
},
{
"name": "AMN",
"pos": [
79,
82
],
"type": "Disease"
},
{
"name": "ALD",
"pos": [
123,
126
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Eleven missense and two nonsense mutations , five deletions , and one insertion were detected by direct sequencing of eight reverse transcribed fragments of the ALD - gene mRNA .
|
[
{
"name": "ALD",
"pos": [
161,
164
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Four mutations could be shown to be de novo .
|
[] |
ncbi
|
[
"Disease"
] |
All mutations could be confirmed in carriers by sequencing genomic DNA .
|
[] |
ncbi
|
[
"Disease"
] |
No correlation between the type of mutation and the severity of the phenotype could be observed .
|
[] |
ncbi
|
[
"Disease"
] |
The mutations were not detected in the ALD gene of 30 healthy persons . .
|
[
{
"name": "ALD",
"pos": [
39,
42
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The murine homolog of the human breast and ovarian cancer susceptibility gene Brca1 maps to mouse chromosome 11D .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
32,
57
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The recently cloned human breast and ovarian cancer susceptibility gene , BRCA1 , is located on human chromosome 17q21 .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
26,
51
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
We have isolated murine genomic clones containing Brca1 as a first step in generating a mouse model for the loss of BRCA1 function .
|
[] |
ncbi
|
[
"Disease"
] |
A mouse genomic library was screened using probes corresponding to exon 11 of the human BRCA1 gene .
|
[] |
ncbi
|
[
"Disease"
] |
Two overlapping mouse clones were identified that hybridized to human BRCA1 exons 9 - 12 .
|
[] |
ncbi
|
[
"Disease"
] |
Sequence analysis of 1 .
|
[] |
ncbi
|
[
"Disease"
] |
4 kb of the region of these clones corresponding to part of human exon 11 revealed 72 % nucleic acid identity but only 50 % amino acid identity with the human gene .
|
[] |
ncbi
|
[
"Disease"
] |
The longest of the mouse Brca1 genomic clones maps to chromosome 11D , as determined by two - color fluorescence in situ hybridization .
|
[] |
ncbi
|
[
"Disease"
] |
The synteny to human chromosome 17 was confirmed by cohybridization with the mouse probe for the NF1 - gene .
|
[] |
ncbi
|
[
"Disease"
] |
This comparative study confirms that the relative location of the BRCA1 gene has been conserved between mice and humans .
|
[] |
ncbi
|
[
"Disease"
] |
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate - transporter gene ( DTDST ) : evidence for a phenotypic series involving three chondrodysplasias .
|
[
{
"name": "Atelosteogenesis type II",
"pos": [
0,
24
],
"type": "Disease"
},
{
"name": "diastrophic dysplasia",
"pos": [
55,
76
],
"type": "Disease"
},
{
"name": "chondrodysplasias",
"pos": [
165,
182
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Atelosteogenesis type II ( AO II ) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another chondrodysplasia , the much less severe diastrophic dysplasia ( DTD ) .
|
[
{
"name": "Atelosteogenesis type II",
"pos": [
0,
24
],
"type": "Disease"
},
{
"name": "AO II",
"pos": [
27,
32
],
"type": "Disease"
},
{
"name": "chondrodysplasia",
"pos": [
58,
74
],
"type": "Disease"
},
{
"name": "chondrodysplasia",
"pos": [
149,
165
],
"type": "Disease"
},
{
"name": "diastrophic dysplasia",
"pos": [
189,
210
],
"type": "Disease"
},
{
"name": "DTD",
"pos": [
213,
216
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The similarity suggests a shared pathogenesis involving lesions in the same biochemical pathway and perhaps the same gene .
|
[] |
ncbi
|
[
"Disease"
] |
DTD is caused by mutations in the recently identified diastrophic dysplasia sulfate - transporter gene ( DTDST ) .
|
[
{
"name": "DTD",
"pos": [
0,
3
],
"type": "Disease"
},
{
"name": "diastrophic dysplasia",
"pos": [
54,
75
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Here , we report that AOII patients also have DTDST mutations , which lead to defective uptake of inorganic sulfate and insufficient sulfation of macromolecules by patient mesenchymal cells in vitro .
|
[
{
"name": "AOII",
"pos": [
22,
26
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Together with our recent observation that a third even more severe chondrodysplasia , achondrogenesis type IB , is also caused by mutations in DTDST , these results demonstrate a phenotypic series of three chondrodysplasias of increasing severity caused by lesions in a single sulfate - transporter gene .
|
[
{
"name": "chondrodysplasia",
"pos": [
67,
83
],
"type": "Disease"
},
{
"name": "chondrodysplasias",
"pos": [
206,
223
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
The severity of the phenotype appears to be correlated with the predicted effect of the mutations on the residual activity of the DTDST protein . .
|
[] |
ncbi
|
[
"Disease"
] |
Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families : results of an international study .
|
[] |
ncbi
|
[
"Disease"
] |
Several BRCA1 mutations have now been found to occur in geographically diverse breast and ovarian cancer families .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
79,
104
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
To investigate mutation origin and mutation - specific phenotypes due to BRCA1 , we constructed a haplotype of nine polymorphic markers within or immediately flanking the BRCA1 locus in a set of 61 breast / ovarian cancer families selected for having one of six recurrent BRCA1 mutations .
|
[
{
"name": "breast / ovarian cancer",
"pos": [
198,
221
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Tests of both mutations and family - specific differences in age at diagnosis were not significant .
|
[] |
ncbi
|
[
"Disease"
] |
A comparison of the six mutations in the relative proportions of cases of breast and ovarian cancer was suggestive of an effect ( P = . 069 ) , with 57 % of women presumed affected because of the 1294 del 40 BRCA1 mutation having ovarian cancer , compared with 14 % of affected women with the splice - site mutation in intron 5 of BRCA1 .
|
[
{
"name": "breast and ovarian cancer",
"pos": [
74,
99
],
"type": "Disease"
},
{
"name": "ovarian cancer",
"pos": [
230,
244
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
For the BRCA1 mutations studied here , the individual mutations are estimated to have arisen 9 - 170 generations ago .
|
[] |
ncbi
|
[
"Disease"
] |
In general , a high degree of haplotype conservation across the region was observed , with haplotype differences most often due to mutations in the short - tandem - repeat markers , although some likely instances of recombination also were observed .
|
[] |
ncbi
|
[
"Disease"
] |
For several of the instances , there was evidence for multiple , independent , BRCA1 mutational events .
|
[] |
ncbi
|
[
"Disease"
] |
Isolation of the mouse homologue of BRCA1 and genetic mapping to mouse chromosome 11 .
|
[] |
ncbi
|
[
"Disease"
] |
The BRCA1 gene is in large part responsible for hereditary human breast and ovarian cancer .
|
[
{
"name": "hereditary human breast and ovarian cancer",
"pos": [
48,
90
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Here we report the isolation of the murine Brca1 homologue cDNA clones .
|
[] |
ncbi
|
[
"Disease"
] |
In addition , we identified genomic P1 clones that contain most , if not all , of the mouse Brca1 locus .
|
[] |
ncbi
|
[
"Disease"
] |
DNA sequence analysis revealed that the mouse and human coding regions are 75 % identical at the nucleotide level while the predicted amino acid identity is only 58 % .
|
[] |
ncbi
|
[
"Disease"
] |
A DNA sequence variant in the Brca1 locus was identified and used to map this gene on a ( Mus m . musculus Czech II x C57BL / KsJ ) F1 x C57BL / KsJ intersubspecific backcross to distal mouse chromosome 11 .
|
[] |
ncbi
|
[
"Disease"
] |
The mapping of this gene to a region highly syntenic with human chromosome 17 , coupled with Southern and Northern analyses , confirms that we isolated the murine Brca1 homologue rather than a related RING finger gene .
|
[] |
ncbi
|
[
"Disease"
] |
The isolation of the mouse Brca1 homologue will facilitate the creation of mouse models for germline BRCA1 defects . .
|
[
{
"name": "BRCA1 defects",
"pos": [
101,
114
],
"type": "Disease"
}
] |
ncbi
|
[
"Disease"
] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.