The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1997-05

AUTHORS

S.-H. Chen, Jonathan M. Schoof, Norman E. Buroker, C. Ronald Scott

ABSTRACT

We have evaluated the structure of the CGG repeat within the FMR1 gene of an Asian population and found the most common size of the repeat to be 29 and 30 with a minor population of 36 repeats. We have isolated and sequenced DNA containing the 36 repeats and found the basis sequence to be (CGG)9AGG(CGG)9AGG-(CGG)6AGG(CGG)9; with a (CGG)6)AGG insertion, designated as 9A9A6A9. Of 144 Asian chromosomes, 11 (8%) had sequences with this insertion. Six different variations of the basic sequence were observed in the population: 9A9A6A2A9, 9A9A6A11, 9A9A16, 9A9A15, 8A9A6A6A9, and 11A6A6A9. All but one of the chromosomes with the insertion had the haplotype of DXS548/ FRAXAC1: 194/D suggesting that the sequences with the 6A insertion arose from a single ancestral allele. We have not observed the insertion in the FMR1 gene of Caucasians or Native Americans. The (CGG)6AGG insertion may be unique to Asians. More... »

PAGES

793-795

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s004390050450

DOI

http://dx.doi.org/10.1007/s004390050450

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024101693

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/9187675


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

JSON-LD is the canonical representation for SciGraph data.

TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

[
  {
    "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
    "about": [
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Alleles", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Asian Continental Ancestry Group", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "European Continental Ancestry Group", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Evolution, Molecular", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fragile X Mental Retardation Protein", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Fragile X Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Indians, North American", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Nerve Tissue Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Northwestern United States", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "RNA-Binding Proteins", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sequence Analysis, DNA", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Trinucleotide Repeats", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Box 356320,  University of Washington, Seattle, WA 98195, USA  Tel.: +1-206-527-3872; Fax: +1-206-527-3838;  e-mail: schen@chmc.org, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Chen", 
        "givenName": "S.-H.", 
        "id": "sg:person.01337562336.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337562336.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Seattle Children's Hospital", 
          "id": "https://www.grid.ac/institutes/grid.240741.4", 
          "name": [
            "Department of Laboratories, CH 37, Children\u2019s Hospital and Medical Center, Seattle, WA 98105, USA, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Schoof", 
        "givenName": "Jonathan M.", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Box 356320,  University of Washington, Seattle, WA 98195, USA  Tel.: +1-206-527-3872; Fax: +1-206-527-3838;  e-mail: schen@chmc.org, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Buroker", 
        "givenName": "Norman E.", 
        "id": "sg:person.0775616563.38", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775616563.38"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Department of Pediatrics, Box 356320,  University of Washington, Seattle, WA 98195, USA  Tel.: +1-206-527-3872; Fax: +1-206-527-3838;  e-mail: schen@chmc.org, US"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Scott", 
        "givenName": "C. Ronald", 
        "id": "sg:person.015344603417.23", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015344603417.23"
        ], 
        "type": "Person"
      }
    ], 
    "datePublished": "1997-05", 
    "datePublishedReg": "1997-05-01", 
    "description": "We have evaluated the structure of the CGG repeat within the FMR1 gene of an Asian population and found the most common size of the repeat to be 29 and 30 with a minor population of 36 repeats. We have isolated and sequenced DNA containing the 36 repeats and found the basis sequence to be (CGG)9AGG(CGG)9AGG-(CGG)6AGG(CGG)9; with a (CGG)6)AGG insertion, designated as 9A9A6A9. Of 144 Asian chromosomes, 11 (8%) had sequences with this insertion. Six different variations of the basic sequence were observed in the population: 9A9A6A2A9, 9A9A6A11, 9A9A16, 9A9A15, 8A9A6A6A9, and 11A6A6A9. All but one of the chromosomes with the insertion had the haplotype of DXS548/ FRAXAC1: 194/D suggesting that the sequences with the 6A insertion arose from a single ancestral allele. We have not observed the insertion in the FMR1 gene of Caucasians or Native Americans. The (CGG)6AGG insertion may be unique to Asians.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s004390050450", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1085982", 
        "issn": [
          "0340-6717", 
          "1432-1203"
        ], 
        "name": "Human Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "6", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "99"
      }
    ], 
    "name": "The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians", 
    "pagination": "793-795", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "72d35e6453db2ef8f4fc087ca3bd6c64f70df544a75621a1f7198cd9735c227f"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "9187675"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7613873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s004390050450"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1024101693"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s004390050450", 
      "https://app.dimensions.ai/details/publication/pub.1024101693"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T09:34", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000346_0000000346/records_99818_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs004390050450"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/s004390050450'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s004390050450'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s004390050450'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s004390050450'


 

This table displays all metadata directly associated to this object as RDF triples.

151 TRIPLES      20 PREDICATES      43 URIs      35 LITERALS      23 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s004390050450 schema:about N3951cef10c114fdba5da39b0d47090b9
2 N55691e8062114ce581c572deea80b3da
3 N60db3d07fd7d4c628f33e216e4ebba28
4 N97def5e3e7f247a6950ab4e5d95c8398
5 N9c5926df7da94c1da8618c9842746d2a
6 Na6ab2a7e951e4f9f910a74a607af1cdc
7 Na774fe8babec429c93f086796310e5fe
8 Na9c4da7806c9444693d8e1e1750ac3c2
9 Naf7c6ae33db4440ea97ae7e97d82a834
10 Nb12638eece7643cfa52323522cad90c3
11 Nb4cda6e93b6848fdbfb6bcd2dbd1ec6e
12 Nb7eb3fc45b994bd788e73f64feb609de
13 Nce70a7d1e290462bb597603c5be7e87c
14 Nfd1c1d1b80294222877e91ea6f13d82f
15 anzsrc-for:06
16 anzsrc-for:0604
17 schema:author Na95e36a412d84de088bbcae8b2c5202d
18 schema:datePublished 1997-05
19 schema:datePublishedReg 1997-05-01
20 schema:description We have evaluated the structure of the CGG repeat within the FMR1 gene of an Asian population and found the most common size of the repeat to be 29 and 30 with a minor population of 36 repeats. We have isolated and sequenced DNA containing the 36 repeats and found the basis sequence to be (CGG)9AGG(CGG)9AGG-(CGG)6AGG(CGG)9; with a (CGG)6)AGG insertion, designated as 9A9A6A9. Of 144 Asian chromosomes, 11 (8%) had sequences with this insertion. Six different variations of the basic sequence were observed in the population: 9A9A6A2A9, 9A9A6A11, 9A9A16, 9A9A15, 8A9A6A6A9, and 11A6A6A9. All but one of the chromosomes with the insertion had the haplotype of DXS548/ FRAXAC1: 194/D suggesting that the sequences with the 6A insertion arose from a single ancestral allele. We have not observed the insertion in the FMR1 gene of Caucasians or Native Americans. The (CGG)6AGG insertion may be unique to Asians.
21 schema:genre research_article
22 schema:inLanguage en
23 schema:isAccessibleForFree false
24 schema:isPartOf N5200112881d3434aac749795ad01fc20
25 Nee625ecebe1c4519904db95cf425b96b
26 sg:journal.1085982
27 schema:name The identification of a (CGG)6AGG insertion within the CGG repeat of the FMR1 gene in Asians
28 schema:pagination 793-795
29 schema:productId N55ccd56c59d342cc8ce44a4588bd720b
30 N662e461130ff40de85a1a055572c2d76
31 N8106f5a0a24b4fedaf36f9425ce42883
32 Nc9d6d6fbb59c4421a445cbf78394627b
33 Nf77b9b5d9ada4a218c10194100ce6a09
34 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024101693
35 https://doi.org/10.1007/s004390050450
36 schema:sdDatePublished 2019-04-11T09:34
37 schema:sdLicense https://scigraph.springernature.com/explorer/license/
38 schema:sdPublisher Ndb23313053f54992954b595dd06cba9e
39 schema:url https://link.springer.com/10.1007%2Fs004390050450
40 sgo:license sg:explorer/license/
41 sgo:sdDataset articles
42 rdf:type schema:ScholarlyArticle
43 N0bf785393c564018863662c08e658e05 schema:name Department of Pediatrics, Box 356320, University of Washington, Seattle, WA 98195, USA Tel.: +1-206-527-3872; Fax: +1-206-527-3838; e-mail: schen@chmc.org, US
44 rdf:type schema:Organization
45 N14b51acfc8c946ffa037b3ec0e8bd06c schema:name Department of Pediatrics, Box 356320, University of Washington, Seattle, WA 98195, USA Tel.: +1-206-527-3872; Fax: +1-206-527-3838; e-mail: schen@chmc.org, US
46 rdf:type schema:Organization
47 N2423952637c3452c9f14debeec22a12f rdf:first sg:person.0775616563.38
48 rdf:rest N655b8f5b801a42c9bde4849af43d8142
49 N375a574523ce47baacf1325e3fe45b17 schema:name Department of Pediatrics, Box 356320, University of Washington, Seattle, WA 98195, USA Tel.: +1-206-527-3872; Fax: +1-206-527-3838; e-mail: schen@chmc.org, US
50 rdf:type schema:Organization
51 N3951cef10c114fdba5da39b0d47090b9 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
52 schema:name Male
53 rdf:type schema:DefinedTerm
54 N5200112881d3434aac749795ad01fc20 schema:issueNumber 6
55 rdf:type schema:PublicationIssue
56 N55691e8062114ce581c572deea80b3da schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Sequence Analysis, DNA
58 rdf:type schema:DefinedTerm
59 N55ccd56c59d342cc8ce44a4588bd720b schema:name pubmed_id
60 schema:value 9187675
61 rdf:type schema:PropertyValue
62 N60db3d07fd7d4c628f33e216e4ebba28 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
63 schema:name RNA-Binding Proteins
64 rdf:type schema:DefinedTerm
65 N61cff8a671a84d758f380dd381432c9f schema:affiliation https://www.grid.ac/institutes/grid.240741.4
66 schema:familyName Schoof
67 schema:givenName Jonathan M.
68 rdf:type schema:Person
69 N655b8f5b801a42c9bde4849af43d8142 rdf:first sg:person.015344603417.23
70 rdf:rest rdf:nil
71 N662e461130ff40de85a1a055572c2d76 schema:name readcube_id
72 schema:value 72d35e6453db2ef8f4fc087ca3bd6c64f70df544a75621a1f7198cd9735c227f
73 rdf:type schema:PropertyValue
74 N8106f5a0a24b4fedaf36f9425ce42883 schema:name doi
75 schema:value 10.1007/s004390050450
76 rdf:type schema:PropertyValue
77 N86b3cf06eee249c3828ce77e2f615eb3 rdf:first N61cff8a671a84d758f380dd381432c9f
78 rdf:rest N2423952637c3452c9f14debeec22a12f
79 N97def5e3e7f247a6950ab4e5d95c8398 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
80 schema:name Northwestern United States
81 rdf:type schema:DefinedTerm
82 N9c5926df7da94c1da8618c9842746d2a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
83 schema:name Evolution, Molecular
84 rdf:type schema:DefinedTerm
85 Na6ab2a7e951e4f9f910a74a607af1cdc schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
86 schema:name Nerve Tissue Proteins
87 rdf:type schema:DefinedTerm
88 Na774fe8babec429c93f086796310e5fe schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
89 schema:name Asian Continental Ancestry Group
90 rdf:type schema:DefinedTerm
91 Na95e36a412d84de088bbcae8b2c5202d rdf:first sg:person.01337562336.90
92 rdf:rest N86b3cf06eee249c3828ce77e2f615eb3
93 Na9c4da7806c9444693d8e1e1750ac3c2 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
94 schema:name Trinucleotide Repeats
95 rdf:type schema:DefinedTerm
96 Naf7c6ae33db4440ea97ae7e97d82a834 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Fragile X Syndrome
98 rdf:type schema:DefinedTerm
99 Nb12638eece7643cfa52323522cad90c3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Fragile X Mental Retardation Protein
101 rdf:type schema:DefinedTerm
102 Nb4cda6e93b6848fdbfb6bcd2dbd1ec6e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Indians, North American
104 rdf:type schema:DefinedTerm
105 Nb7eb3fc45b994bd788e73f64feb609de schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
106 schema:name European Continental Ancestry Group
107 rdf:type schema:DefinedTerm
108 Nc9d6d6fbb59c4421a445cbf78394627b schema:name nlm_unique_id
109 schema:value 7613873
110 rdf:type schema:PropertyValue
111 Nce70a7d1e290462bb597603c5be7e87c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
112 schema:name Alleles
113 rdf:type schema:DefinedTerm
114 Ndb23313053f54992954b595dd06cba9e schema:name Springer Nature - SN SciGraph project
115 rdf:type schema:Organization
116 Nee625ecebe1c4519904db95cf425b96b schema:volumeNumber 99
117 rdf:type schema:PublicationVolume
118 Nf77b9b5d9ada4a218c10194100ce6a09 schema:name dimensions_id
119 schema:value pub.1024101693
120 rdf:type schema:PropertyValue
121 Nfd1c1d1b80294222877e91ea6f13d82f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
122 schema:name Humans
123 rdf:type schema:DefinedTerm
124 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
125 schema:name Biological Sciences
126 rdf:type schema:DefinedTerm
127 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
128 schema:name Genetics
129 rdf:type schema:DefinedTerm
130 sg:journal.1085982 schema:issn 0340-6717
131 1432-1203
132 schema:name Human Genetics
133 rdf:type schema:Periodical
134 sg:person.01337562336.90 schema:affiliation N14b51acfc8c946ffa037b3ec0e8bd06c
135 schema:familyName Chen
136 schema:givenName S.-H.
137 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337562336.90
138 rdf:type schema:Person
139 sg:person.015344603417.23 schema:affiliation N0bf785393c564018863662c08e658e05
140 schema:familyName Scott
141 schema:givenName C. Ronald
142 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015344603417.23
143 rdf:type schema:Person
144 sg:person.0775616563.38 schema:affiliation N375a574523ce47baacf1325e3fe45b17
145 schema:familyName Buroker
146 schema:givenName Norman E.
147 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0775616563.38
148 rdf:type schema:Person
149 https://www.grid.ac/institutes/grid.240741.4 schema:alternateName Seattle Children's Hospital
150 schema:name Department of Laboratories, CH 37, Children’s Hospital and Medical Center, Seattle, WA 98105, USA, US
151 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...