A Gene for Universal Congenital Alopecia Maps to Chromosome 8p21-22

SummaryComplete or partial congenital absence of hair (congenital alopecia) may occur either in isolation or with associated defects. The majority of families with isolated congenital alopecia has been reported to follow an autosomal-recessive mode of inheritance (MIM 203655). As yet, no gene has been linked to isolated congenital alopecia, nor has linkage been established to a specific region of the genome. In an attempt to map the gene for the autosomal recessive form of the disorder, we have performed genetic linkage analysis on a large inbred Pakistani family in which affected persons show complete absence of hair development (universal congenital alopecia). We have analyzed individuals of this family, using >175 microsatellite polymorphic markers of the human genome. A maximum LOD score of 7.90 at a recombination fraction of 0 has been obtained with locus D8S258. Haplotype analysis of recombination events localized the disease to a 15-cM region between marker loci D8S261 and D8S1771. We have thus mapped the gene for this hereditary form of isolated congenital alopecia to a locus on chromosome 8p21-22 (ALUNC [alopecia universalis congenitalis]). This will aid future identification of the responsible gene, which will be extremely useful for the understanding of the biochemistry of hair development

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences

<p>Abstract</p> <p>Background</p> <p>Type II syndactyly or synpolydactyly (SPD) is clinically very heterogeneous, and genetically three distinct SPD conditions are known and have been designated as SPD1, SPD2 and SPD3, respectively. SPD1 type is associated with expansion mutations in <it>HOXD13</it>, resulting in an addition of ≥ 7 alanine residues to the polyalanine repeat. It has been suggested that expansions ≤ 6 alanine residues go without medical attention, as no such expansion has ever been reported with the SPD1 phenotype.</p> <p>Methods</p> <p>We describe a large Pakistani and an Indian family with SPD. We perform detailed clinical and molecular analyses to identify the genetic basis of this malformation.</p> <p>Results</p> <p>We have identified four distinct clinical categories for the SPD1 phenotype observed in the affected subjects in both families. Next, we show that a milder foot phenotype, previously described as a separate entity, is in fact a part of the SPD1 phenotypic spectrum. Then, we demonstrate that the phenotype in both families segregates with an identical expansion mutation of 21 bp in <it>HOXD13</it>. Finally, we show that the HOXD13 polyalanine repeat is polymorphic, and the expansion of 2 alanine residues, evident in unaffected subjects of both families, is without clinical consequences.</p> <p>Conclusion</p> <p>It is the first molecular evidence supporting the hypothesis that expansion of ≤ 6 alanine residues in the HOXD13 polyalanine repeat is not associated with the SPD1 phenotype.</p

Interference of white clover with the growth and yield of sugar beet

Interference between sugar beet (Beta vulgaris L. cv. Amazon) and white clover (Trifolium repens L. cv. Huia) was examined in a field experiment based on the DeWit replacement series model. The object of this study was to test the extent to which the growth of sugar beet is suppressed by white clover. Eight treatment combinations were replicated four times in a randomised complete block design. In all treatments 16 plants per m² were maintained in proportions (1:0; 0.75:0.25; 0.50:0.50; 0.25:0.75; and 0:1) of sugar beet and white clover. Both in-row and between-row planting arrangements were included in the experimental design. Three harvests were taken at six weekly intervals from 187 days after sowing. The competitive ability of the two species was examined mostly by using the concept of relative yield total (RYT). A lack of competitive suppression of sugar beet and a severe reduction of white clover yield in mixture with sugar beet was observed in this study. When grown with white clover in a 0.75:0.25 mixture and between-row arrangement, sugar beet had a total dry matter yield 18% higher than that in pure stands at the final harvest. On the other hand, pure stands of white clover produced a significantly higher total dry matter yield than the average of the mixed populations. However, the 75:25 SB:WC mixture produced greater relative yield (RY) ratio and thus the corresponding RYT for the total dry matter was greater than 1.0. This was due to higher economic yield (root + crown) of sugar beet in the 75:25 SB:WC mixture. The RYT of root dry weight was consistently greater than 1.0 with 75:25 SB:WC treatment when grown in between row arrangement. Nevertheless, the highest RYT of 1.37 was finally achieved by the 25:75 SB:WC association in the in-row arrangement. At the final harvest, pure stands of sugar beet had 20% higher shoot dry weight, 19% higher leaf dry weight, and 9% larger leaf area than the average in the 75:25 SB:WC mixture. The 75:25 and 25:75 SB:WC mixtures have given conflicting RYT values for root dry weight, presumably reflecting the larger relative leaf area and thus bigger root size of individual plants in the low density sugar beet population. It was observed that severe shading by sugar beet leaves reduced the light energy available to white clover plants considerably and markedly suppressed their growth and development, particularly the stolon production. Consequently, white clover, a light-demanding plant, was less effective in competition with sugar beet. Therefore, no detrimental effects of white clover as a weed could be demonstrated in the present experiment. However, it is suggested that white clover may enhance the growth and yield of sugar beet in mixture

Seroprevalence of Acute Hepatitis Caused by HAV & HEV in Gazipur, Bangladesh.

Hepatitis A and E virus (HAV &amp; HEV) are the most common causes of acute hepatitis. Both of them are endemic in South Asia; specially in the developing countries, like Bangladesh. This study was undertaken to determine the prevalence, age-specific prevalence and seasonal variation of Hepatitis A and Hepatitis E in Gazipur district. This cross-sectional study was conducted in 1118 patients presenting with acute viral hepatitis. All patients were tested for Anti-HAV IgM and Anti-HEV IgM by Enzyme Linked Immunosorbent Assay (ELISA) method. The study population was divided into 7 groups according to their ages with 10 years interval. Among 1118 patients, 571(51.0%) &amp; 203 (18.2%) were found HEV IgM positive and HAV IgM respectively. Rest 344 (30.8%) patients were negative for both HAV IgM &amp; HEV IgM. 64.0% and 77.8% male patients were positive for HAV and HEV infection. In our study, it was found that 62.4% patients positive for Hepatitis A infection were less than 10 years and 73.9% &amp; 70.5% HEV positive patients were in 31 years to 40 years and 41 years to 50 years age group. HAV &amp; HEV infections occur all year round with a peak during hot seasons with great number of rains. It may be concluded with that both HAV &amp; HEV infection can occur at any age throughout the year. But HAV affect more in children and HEV affect more in adults with a peak during hot seasons with great number of rains

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre‐axial polydactyly, post‐axial polydactyly, and syndactyly

Limb malformations are one of the most common types of human congenital malformations. Mutations in the ZRS enhancer of Sonic Hedgehog are thought to be responsible for pre-axial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakistan, with a variable set of limb malformations and a novel ZRS mutation. The family has a limb phenotype characterized by triphalangeal thumb, pre-axial polydactyly, and post-axial polydactyly. There is also a high degree of phenotypic heterogeneity with less common clinical findings in the affected family members that include osseous syndactyly of forth-fifth fingers, clinodactyly, hypoplasia of mesoaxial fingers, and bifid halluces. The presentation in most of the affected patients was bilateral and symmetrical. A heterozygous C&gt;A mutation at position 287 of the ZRS enhancer (chr7:156,584,283; hg19) was detected in all affected subjects and is absent from four unaffected family members, 42 unrelated samples, and multiple databases of human variation. Combined, these results identify a novel ZRS287 C&gt;A mutation which leads to a variable spectrum of limb phenotypes

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences-0

<p><b>Copyright information:</b></p><p>Taken from "Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences"</p><p>http://www.biomedcentral.com/1471-2350/8/78</p><p>BMC Medical Genetics 2007;8():78-78.</p><p>Published online 11 Dec 2007</p><p>PMCID:PMC2222244.</p><p></p>es. , (subject IX-23); , (IX-20); , (VIII-24); , (IV-7); , (III-3); , (V-6); , (V-3). Phenotypic categories are given in Figure 3

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences-3

<p><b>Copyright information:</b></p><p>Taken from "Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences"</p><p>http://www.biomedcentral.com/1471-2350/8/78</p><p>BMC Medical Genetics 2007;8():78-78.</p><p>Published online 11 Dec 2007</p><p>PMCID:PMC2222244.</p><p></p>es. , (subject IX-23); , (IX-20); , (VIII-24); , (IV-7); , (III-3); , (V-6); , (V-3). Phenotypic categories are given in Figure 3