A novel RHD allele, with c . 491A > T ( p.Asp164Val ) mutation, identified via family pedigree analysis

Transfusion ◽  
2021 ◽  
Author(s):  
Jing Wang ◽  
Wenjun Que ◽  
Yan Xing ◽  
Qing Li ◽  
Tingxi Zhan ◽  
...  
1997 ◽  
Vol 130 (4) ◽  
pp. 647-651 ◽  
Author(s):  
Francis J. DiMario ◽  
Mansoor Sarfarazi

Genome ◽  
2011 ◽  
Vol 54 (1) ◽  
pp. 81-89 ◽  
Author(s):  
S. S. Xu ◽  
C. G. Chu ◽  
M. O. Harris ◽  
C. E. Williams

Near-isogenic lines (NILs) are useful for plant genetic and genomic studies. However, the strength of conclusions from such studies depends on the similarity of the NILs’ genetic backgrounds. In this study, we investigated the genetic similarity for a set of NILs developed in the 1990s to study gene-for-gene interactions between wheat ( Triticum aestivum L.) and the Hessian fly ( Mayetiola destructor (Say)), an important pest of wheat. Each of the eight NILs carries a single H resistance gene and was created by successive backcrossing for two to six generations to susceptible T. aestivum ‘Newton’. We generated 256 target region amplification polymorphism (TRAP) markers and used them to calculate genetic similarity, expressed by the Nei and Li (NL) coefficient. Six of the NILs (H3, H5, H6, H9, H11, and H13) had the highly uniform genetic background of Newton, with NL coefficients from 0.97 to 0.99. However, genotypes with H10 or H12 were less similar to Newton, with NL coefficients of 0.86 and 0.93, respectively. Cluster analysis based on NL coefficients and pedigree analysis showed that the genetic similarity between each of the NILs and Newton was affected by both the number of backcrosses and the genetic similarity between Newton and the H gene donors. We thus generated an equation to predict the number of required backcrosses, given varying similarity of donor and recurrent parent. We also investigated whether the genetic residues of the donor parents that remained in the NILs were related to linkage drag. By using a complete set of ‘Chinese Spring’ nullisomic-tetrasomic lines, one third of the TRAP markers that showed polymorphism between the NILs and Newton were assigned to a specific chromosome. All of the assigned markers were located on chromosomes other than the chromosome carrying the H gene, suggesting that the genetic residues detected in this study were not due to linkage drag. Results will aid in the development and use of near-isogenic lines for studies of the functional genomics of wheat.


2021 ◽  
pp. 104484
Author(s):  
Ricardo António da Silva Faria ◽  
António Pedro Andrade Vicente ◽  
Alejandra Maria Toro Ospina ◽  
Josineudson Augusto II Vasconcelos Silva

Genetics ◽  
1999 ◽  
Vol 152 (4) ◽  
pp. 1711-1722 ◽  
Author(s):  
Gavin A Huttley ◽  
Michael W Smith ◽  
Mary Carrington ◽  
Stephen J O’Brien

Abstract Linkage disequilibrium (LD), the tendency for alleles of linked loci to co-occur nonrandomly on chromosomal haplotypes, is an increasingly useful phenomenon for (1) revealing historic perturbation of populations including founder effects, admixture, or incomplete selective sweeps; (2) estimating elapsed time since such events based on time-dependent decay of LD; and (3) disease and phenotype mapping, particularly for traits not amenable to traditional pedigree analysis. Because few descriptions of LD for most regions of the human genome exist, we searched the human genome for the amount and extent of LD among 5048 autosomal short tandem repeat polymorphism (STRP) loci ascertained as specific haplotypes in the European CEPH mapping families. Evidence is presented indicating that ∼4% of STRP loci separated by <4.0 cM are in LD. The fraction of locus pairs within these intervals that display small Fisher’s exact test (FET) probabilities is directly proportional to the inverse of recombination distance between them (1/cM). The distribution of LD is nonuniform on a chromosomal scale and in a marker density-independent fashion, with chromosomes 2, 15, and 18 being significantly different from the genome average. Furthermore, a stepwise (locus-by-locus) 5-cM sliding-window analysis across 22 autosomes revealed nine genomic regions (2.2-6.4 cM), where the frequency of small FET probabilities among loci was greater than or equal to that presented by the HLA on chromosome 6, a region known to have extensive LD. Although the spatial heterogeneity of LD we detect in Europeans is consistent with the operation of natural selection, absence of a formal test for such genomic scale data prevents eliminating neutral processes as the evolutionary origin of the LD.


2014 ◽  
Vol 167 ◽  
pp. 1-8 ◽  
Author(s):  
O. Cortés ◽  
N. Sevane ◽  
J.A. Baro ◽  
J. Cañón

1993 ◽  
Vol 50 (7) ◽  
pp. 1559-1567 ◽  
Author(s):  
T. A. Stevens ◽  
R. E. Withler ◽  
S. H. Goh ◽  
T. D. Beacham

A multilocus DNA probe, B2-2, isolated from chinook salmon (Oncorhynchus tshawytscha) and a single-locus Atlantic salmon (Salmo salar) probe, 3.15.34, were examined for discriminatory ability among seven parents and 33–37 juveniles from five families of chinook salmon. DNA fingerprint patterns were observed in Hae III-digested chinook salmon DNA probed with B2-2. Between 8 and 20 fragments, from 2.20 kilobase pairs (kbp) to 19.0 kbp, were detected in each individual. The level of band sharing among unrelated parents was 0.18. Probe 3.15.34 hybridized with a total of nine DNA fragments, from 3.35 to 6.00 kbp, in the chinook salmon parents and progeny. One or two fragments were detected in each individual. Pedigree analysis confirmed that 3.15.34 detected both alleles of a single polymorphic locus whereas B2-2 detected autosomal, unlinked, predominantly heterozygous DNA fragments that were inherited in a Mendelian fashion at a minimum of 10 polymorphic loci. Among juvenile chinook salmon, levels of band sharing detected with probe B2-2 increased with increasing relatedness, and clustering based on differences in banding patterns distinguished unrelated progeny, half sibs, and full sibs even in the absence of parental genotypic data.


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