Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4 [HGM provisional no. IMS 139]

Milner, Eric C. B.; Lotshaw, Carla; Dijk, Ko Willems van; Charmley, Patrick; Concannon, Patrick; Schroeder, Harry W.

doi:10.1093/nar/17.10.4002

Cited by 46 publications

(9 citation statements)

References 1 publication

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The patterns of fragment sizes recognized by the probes, D4S139 and D17S79, were compared between the cell lines to confirm the hybrid nature of the HCLs [Milner et al, 1989;Balazs et al, 19891.…”

Section: Somatic Cell Hybridization Experimentsmentioning

confidence: 99%

Heterogeneity in Roberts syndrome

Allingham-Hawkins

Tomkins

1995

Am. J. Med. Genet.

View full text Add to dashboard Cite

Roberts syndrome (RS) is a rare, autosomal recessive condition characterized primarily by growth retardation, developmental delay, and limb anomalies. Some RS patients (RS+), but not others (RS-), have an abnormality of their constitutive heterochromatin (the "RS effect"). RS+ patients also show a cellular hypersensitivity to DNA damaging agents such as mitomycin C (MMC). Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of the RS effect and MMC hypersensitivity. Neither cellular defect was corrected in the 2 hybrid cell lines examined, suggesting that these 2 patients represent a single complementation group. Fusions were also performed between one RS+ cell line and 2 different RS- cell lines. In both fusions, the hybrids demonstrated correction of both the heterochromatin abnormality and MMC hypersensitivity. These observations suggest that RS+ and RS- patients belong to different complementation groups and do not arise from the same single gene mutation.

show abstract

Section: Somatic Cell Hybridization Experimentsmentioning

confidence: 99%

Heterogeneity in Roberts syndrome

Allingham-Hawkins

Tomkins

1995

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…Probes corresponding to loci DIS7 and D7S22 (Wong et al 1987), D4S139 (Milner et al 1989), and D17S79 (Balazs et al 1989) were obtained from Cellmark Diagnostics (Germantown, Md. ), Genelex (Seattle, Wash.), and Lifecodes (Valhalla, N.Y.), respectively.…”

Section: Dna Hybridization Probesmentioning

confidence: 99%

“…However, we have recently noted cases in which three or more fragment lengths may be associated with individual VNTR loci. For locus D4S139 (Milner et al 1989), phenotypes consisting of three fragment lengths were detected from HaeIII-digested genomic DNA of a small portion of the population. In this report, we demonstrate that Offprint requests to: J. S. Waye, Central Forensic Laboratory, Royal Canadian Mounted Police, P.O.…”

Section: Introductionmentioning

confidence: 99%

Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism

Waye

Fourney

1990

Hum Genet

View full text Add to dashboard Cite

Restriction fragment length polymorphisms (RFLPs) of genomic DNA are generally attributable to base changes that create or abolish restriction endonuclease sites or to nucleotide sequence insertions or deletions that alter the distance separating two restriction sites. Minisatellite or variable number of tandem repeats (VNTR) markers are prominent examples of the latter type of polymorphism. In this report, we describe complex DNA polymorphisms that are due both to the presence of VNTRs as well as to altered restriction endonuclease sites. A strategy for identifying such polymorphisms and resolving their component allelic fragments is demonstrated.

show abstract

“…In order to test the idea that any general Caucasian data base can provide meaningful estimates of the likelihood of occurrence of a DNA profile for the general identity-testing case, and that there is no anticipated forensi cally significant difference if either a general or a regional population data base is used to convey an estimate of the occurrence of a VNTR profile, restriction fragment length polymorphism (RFLP) analysis of HaelIIdigested human DNA was used for determin ing the allele frequency distributions of the four VNTR loci D2S44 [12], D4S139 [13], D10S28 [14] and D1S7 [15] in the following Caucasian populations: (1) general French, (2) Montréal French Canadians, (3) French Canadians from Chicoutimi (northern Qué bec) and (4) French Canadians from Abitibi (northern Québec). Additionally, the locus D17S79 [16] was analyzed in the Montréal population and the loci D2S44 and D4S139 were analyzed in a Celtic population sample from Brittany (western France).…”

Section: Introductionmentioning

confidence: 99%

Description and Analysis of Allele Distribution for Four VNTR Markers in French and French Canadian Populations

et al. 1995

View full text Add to dashboard Cite

Allele distributions were determined for several VNTR loci in the general French Caucasian population, a French regional population from Brittany and in three French Canadian populations, residing either in Montréal or in one of two other regions in Québec. Allele distributions are highly polymorphic in all populations sampled. Despite a well-documented genetic founder effect in one of the populations, no disequilibrium was detected over all genotypes, within and between loci, for the data bases in this study. Moreover, there were no forensically significant differences observed between estimated frequencies of 1,964 Caucasian and non-Caucasian target DNA profiles estimated in any of the groups.

show abstract

Isolation and mapping of a polymorphic DNA sequence pH30 on chromosome 4 [HGM provisional no. IMS 139]

Cited by 46 publications

References 1 publication

Heterogeneity in Roberts syndrome

Heterogeneity in Roberts syndrome

Identification of complex DNA polymorphisms based on variable number of tandem repeats (VNTR) and restriction site polymorphism

Description and Analysis of Allele Distribution for Four VNTR Markers in French and French Canadian Populations

Contact Info

Product

Resources

About