Genetic linkage map of human chromosome 21

Tanzi, Rudolph E.; Haines, Jonathan L.; Watkins, Paul C.; Stewart, Gordon D.; Wallace, Margaret R.; Hallewell, Robert A.; Wong, C; Wexler, Nancy S.; Conneally, P. Michael; Gusella, James F.

doi:10.1016/0888-7543(88)90143-7

Cited by 112 publications

(51 citation statements)

References 29 publications

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“…For instance, in patient C-1 the trisomy for the region surrounding ETS2 was reaffirmed from the observation of the allelic ratio detected by the D21S23 probe distal to ETS2 (35) (Fig. 5, lane 1), when compared to the heterozygous RFLP pattern of a complete trisomy 21 (lane 2) and a normal control (lane 3), respectively.…”

Section: Resultsmentioning

confidence: 98%

“…To complement the information obtained from densitometry, RFLP analysis using polymorphic chromosome 21 sequences, chosen for loci proximal or distal to ETS2 according to the genetic map (35,36), was also performed. In cases of heterozygosity for the alleles detected by these polymorphic probes, the analysis confirmed the disomy or detected by the ETS2 probe and the EcoRI 3.2-kb band of a reference probe on chromosome 22 was evaluated in five independent experiments for each test DNA and for each control (C) DNA.…”

Section: Resultsmentioning

confidence: 99%

“…Partial monosomies pter>pl3; q22>qter mally or distally to ETS2 (35,36), and a 0.45-kb anonymous DNA fragment mapping on chromosome 22 (N.S., unpublished data).…”

Section: Partial Trisomy Pter>q21mentioning

confidence: 99%

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Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

Sacchi

Nalbantoglu

Sergovich

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

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The human ETS2 gene, a member of the ETS gene family, with sequence homology with the retroviral ets sequence of the avian erythroblastosis retrovirus E26 is located on chromosome 21. Molecular genetic analysis of Down syndrome (DS) patients with partial trisomy 21 allowed us to reinforce the supposition that ETS2 may be a gene of the minimal DS genetic region. It was originally proposed that a duplication of a portion of the DS region represents the genetic basis of Alzheimer disease, a condition associated also with DS.

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Section: Resultsmentioning

confidence: 98%

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.

Sacchi

Nalbantoglu

Sergovich

et al. 1988

Proc. Natl. Acad. Sci. U.S.A.

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“…In the q22.3 region of chromosome 21, 100 kb corresponds to 1 cM, a 10-fold higher meiotic recombination frequency than expected. Table 3 reveals an especially high frequency of crossovers between COL6A1 and PFKL, consistent with genetic analysis (49,50 Giemsa-negative bands are believed to be rich in G+C and rich in genes. This is consistent with our work, since band q22.3 contains many Not I sites, which occur almost exclusively in CpG islands, typically located near genes.…”

Section: Discussionmentioning

confidence: 53%

A contiguous Not I restriction map of band q22.3 of human chromosome 21.

Wang¹,

Fang²,

Cantor³

et al. 1992

Proc. Natl. Acad. Sci. U.S.A.

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A contiguous high-resolution NotI restriction map of the distal region of the long arm of human chromosome 21 was constructed by three strategies: linking clones to identify adjacent pieces of DNA, partial digestion to identify neighboring fragments, and cell line polymorphisms to prove identity or adjacency of DNA fragments. Twenty-nine single-copy DNA probes and five linking clone probes were used to determine the order of 30 Not I fragments, covering 10 megabases of DNA in band q22.3. Smaller Not I fragments occur preferentially in this region, suggesting that band q22.3 is unusually rich in genes, since Not I sites occur almost exclusively in CpG islands. Comparison of the physical map and genetic maps in this region reveals a 10-fold higher than average recombination frequency.

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“…Several known genes or restriction fragment length polymorphic (RFLP) DNA markers have been mapped regionally on chromosome 21 (Watkins et al, 1985Tanzi et al, 1988). In order to clarify genome structure and to define molecular bases of these inherited disorders, great efforts to make a physical map have been made during the past decades.…”

mentioning

confidence: 99%