Structural and functional diversity arising from intra- and inter-haplotype combinations of duplicated DQA and B loci within the ovine MHC
13
Citation
45
Reference
10
Related Paper
Citation Trend
Keywords:
Null allele
DNA samples from Ashkenazic and Sephardic Jews were studied with the Y-chromosome-specific DNA probes p49f and p49a to screen for restriction fragment length polymorphisms and haplotypes. Two haplotypes (VII and VIII) are the most widespread, representing about 50% of the total number of haplotypes in Jews. The major haplotype in Oriental Jews is haplotype VIII (85.1%); haplotype VIII is also the major haplotype in the Djerban Jews (77.5%) (Djerban Jews represent probably one of the oldest Jewish communities). Together these results confirm that haplotype VIII is the ancestral haplotype in Jews.
Cite
Citations (23)
SUMMARY Twenty t haplotypes were extracted from wild mice captured at several locations in Europe, Israel, North Africa, and South America. The haplotypes were designated t Tuw1 through t Tuw20 . The H-2 haplotypes of the lines were defined using antisera and monoclonal antibodies specific for private antigenic determinants controlled by known H-2 alleles and by antisera produced using the new t lines as donors. The t Tuw haplotypes fall into four groups according to the H-2 haplotype associated with them. Haplotypes t Tuw10 through t Tuw18 are associated with H-2 W30 , previously found to be linked with haplotypes of the t w1 group. Haplotypes t Tuw1 through t Tuw6 are associated with a new H-2 haplotype, H-2 w36 , characterized by the determinant H-2.107. Haplotypes t Tuw7 through t Tuw9 are associated with another new H-2 haplotype, H-2 w37 , characterized by determinants H-2.108 and H-2.111. And finally, haplotypes t Tuw19 and t Tuw20 are associated with yet another new H-2 haplotype, H-2 w38 , characterized by determinants H-2.33 and H-2.109. These findings suggest that the t polymorphism might be more extensive and more intricate than it was previously thought to be and that at least some of the t -associated H-2 haplotypes, and probably also the t haplotypes themselves, are related to one another in their origin.
Cite
Citations (39)
C4A
Null allele
Southern blot
Cite
Citations (31)
Abstract The Triplo-lethal locus (Tpl) is unique in its dosage sensitivity; no other locus in Drosophila has been identified that is lethal when present in three doses. Tpl is also haplo-lethal, and its function is still a mystery. Previous workers have found it nearly impossible to mutationally inactive Tpl other than by completely deleting the chromosomal region in which Tpl resides (83DE). We have utilized P-M hybrid dysgenesis in an effort to obtain new mutations of Tpl. We recovered 19 new duplications of Tpl, 15 hypomorphic mutations of Tpl (a previously rare class of mutation), and no null mutations. Surprisingly, 14 of the 15 hypomorphic alleles have no detectable P element sequences at the locus. The difficulty in recovering null mutations in Tpl suggests that it may be a complex locus, perhaps consisting of several genes with redundant functions. The relative ease with which we recovered hypomorphic alleles is in sharp contrast to previous attempts by others to mutagenize Tpl. A higher mutation rate with hybrid dysgenesis than with radiation or chemicals also suggests a peculiar genetic organization for the locus.
Null allele
Cite
Citations (8)
瞄准：为肥沃、不肥沃的人完成 USP26 的全面 haplotype 分析。方法：有严重 oligospermia 或非妨碍的精子缺乏的 200 个不肥沃的人被使遭到为 USP26 基因的全部编码序列定序分析。有证明富饶的 200 个人是由教材延期方法的 genotyped。等位基因 / 遗传型频率，连接不平衡(LD ) 特征和肥沃的人的 haplotypes 与不肥沃的人相比。结果：五单个核苷酸多型性的等位基因频率(370 371insACA， 494T >C， 576G >A， ss6202791C>T， 1737G >A ) 比控制题目在不肥沃的病人是显著地更高的。在不肥沃的人的主要 haplotypes 是 TACCGA (28% 人口) ， TGCCGA (15%) ， TACCAA (8%) ， TGCCAA (6%) ， TATCAA (5%) 和 CATCAA (5%) 。为控制题目的主要 haplotypes 是 TACCGA (58% 人口) ， CACCGA (7%) ， CATCGA (6%) 和 TGCCGA (5%) 。而 haplotypes TACCGA， CACCGA，和 CATCGA 在这些病人是下面播送的， Haplotypes TGCCGA， TATCAA， CATCAA， CATCGC， TACCAA 和 TGCCAA 在有 spermatogenic 缺点的病人是过去播送的。结论：一些 USP26 等位基因和 haplotypes 在台湾在汉国籍与 spermatogenic 缺点被联系，中国。
Haplotype estimation
Cite
Citations (24)
Associations between major histocompatibility complex (MHC) ancestral haplotypes (AHs) and immunopathological diseases are traditionally ascribed to human leukocyte antigen (HLA) class I or class II alleles. However, polymorphisms in TNF and nearby genes in the central MHC can influence risk. We have defined TNF block haplotypes in Asian, European and Australian Aboriginal donors and shown conservation of TNF block haplotypes in geographically distinct populations, consistent with a common evolutionary origin. Here we show that most TNF block haplotypes do not align with a single MHC AH and associations often vary with ethnicity. This suggests more recent recombination events between the TNF block and the HLA alleles.
Cite
Citations (20)
Abstract Duplication of all genes associated with X‐linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as sequence variants or deletions of the same gene. Duplication of PLP1 , the gene associated with Pelizaeus‐Merzbacher syndrome, is the most notable duplication of this type. More commonly, duplication of XLID genes results in very different phenotypes than sequence alterations or deletions. Duplication of MECP2 is widely recognized as a duplication of this type, but a number of others exist. The phenotypes associated with gene duplications are often milder than those caused by deletions and sequence variants. Among some duplications that are clinically significant, marked skewing of X‐inactivation in female carriers has been observed. This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time.
Segmental duplication
Sequence (biology)
Cite
Citations (0)
Abstract The T locus on mouse chromosome 17 is haploid-insufficient: deletion/+ heterozygous mice have a short tail. One exceptional allele, Tc, produces a tailless phenotype in heterozygous mice. Thus, Tc has a more severe phenotype than that of a deletion allele, suggesting either that Tc is further deleted for a neighboring locus, resulting in the additional phenotype, or that Tc is a gain-of-function mutation. We have shown that Tc is not deleted for the D17Leh119 and D17RP17 loci flanking T, which are deleted in some T alleles. Thus, the severity of the Tc phenotype is not due to the deletion of an adjacent locus. We have also examined the genetic nature of the Tc allele by placing it in trans with a T-locus duplication, twLub2, which has previously been independently confirmed at the molecular level to have a duplication in the chromosomal region including the T locus. We have shown that Tc is partially complemented by twLub2, unlike a null allele (deletion) which was previously shown to be fully complemented by twLub2. These results indicate that Tc behaves genetically as an antimorph, exerting its effect by antagonizing the function of a wild-type allele at the T locus. The apparent correlation between the gene dosage at the T locus and the length of the body axis is discussed.
Null allele
Cite
Citations (43)
Phosphoglucomutase
Human genetics
Null allele
Cite
Citations (13)
Summary. To obtain information about the genetic basis of the HL‐A system, 299 unrelated Norwegians were examined with HL‐A antisera. The results indicated that the HL‐A antigens are determined by multiple mutually exclusive genes at two sub‐loci, the LA sub‐locus and the 4 sub‐locus. Four alleles could be identified at the LA sub‐locus: LA1, LA2, LA3 and LA‐BS. Additional alleles exist at this sub‐locus, with a frequency of 0.2572 in this material. Five alleles were found at the 4 sub‐locus: MH, TT, HN, 7C and 7D. Additional alleles also exist at this sub‐locus; the frequency of this ‘null’ allele was calculated to be 0.4565.
Null allele
Cite
Citations (44)