scholarly journals Evidence of parapox-, alphaherpes- and pestivirus infections in carcasses of semi-domesticated reindeer (Rangifer tarandus tarandus) from Finnmark, Norway

Rangifer ◽  
2005 ◽  
Vol 25 (2) ◽  
pp. 75-83 ◽  
Author(s):  
Morten Tryland ◽  
Torill Mørk ◽  
Kathrine A. Ryeng ◽  
Karen K. Sørensen
Keyword(s):  
Rangifer Tarandus ◽  
Orf Virus ◽  
Reindeer Herding ◽  
Base Pairs ◽  
Liver Sample ◽  
Tissue Samples ◽  
B2l Gene ◽  
Rangifer Tarandus Tarandus ◽  
Bovine Papular Stomatitis Virus ◽  
Polymerase Chain

During March to May 2000, 48 carcasses of semi-domesticated reindeer (Rangifer tarandus tarandus) were collected on winter pastures and calving grounds from two herds in western Finnmark and two herds in eastern Finnmark, northern Norway. The animals were autopsied and blood and tissue samples were collected for serology (alphaherpes- and pestivirus; virus neutralization test) and polymerase chain reaction (PCR; parapoxvirus; B2L gene) investigations. Autopsy revealed that 39 of 48 animals (81%) had died of emaciation. Parapoxvirus-specific DNA was detected in samples from 6 of 48 animals (12.5%; liver, parotid salivary gland and/or pulmonary lymph nodes). A DNA sequence of 376 base pairs from a PCR amplicon obtained from a liver sample from one animal showed 98-99% identity with orf virus strain Orf-11 and reindeer parapoxvirus isolates from Norway and Finland (1992 and 1994), 92-93% similarity with pseudocowpoxvirus and 87% similarity with bovine papular stomatitis virus. Alphaherpes- and pestivirus antibodies were detected in 10% and 33% of the animals, respectively. These results indicates that parapoxvirus, presumably orf-virus, is present among reindeer also in Finnmark, although contagious ecthyma has never been reported in reindeer in this important reindeer herding area. Furthermore, they show that herpes- and pestiviruses are still endemic in reindeer herds in Finnmark. The nature of these viruses and their impact on reindeer health and reproduction and reindeer herding economy should be further addressed, as well as the possibility that these viruses may be transferred between reindeer and domestic animals in this region.Abstract in Norwegian / Sammendrag: I løpet av perioden mars-mai 2000 ble 48 reinsdyrkadavre (Rangifer tarandus tarandus) samlet inn fra vinterbeiter og kalvingsområder fra to flokker i Vest-Finnmark og to i Øst-Finnmark, Norge. Dyrene ble obdusert, og blod og vevsprøver ble samlet for påvisning av antistoffer mot alfaherpes- og pestivirus i blod(serologi) og tilstedeværelse av parapoxvirus-DNA i vev (Polymerase kjedereaksjon, PCR; parapoxvirus B2L genet). Obduksjonen viste at 39 av de 48 dyrene (81%) hadde dødd av avmagring. Parapoxvirus-spesifikt DNA ble funnet i prøver av lever, spyttkjertel (Gl. parotis) og/eller lungelymfeknuter fra 6 av de 48 dyrene (12,5%). En DNA sekvens på 376 basepar fra PCR-oppformeringsproduktet fra en leverprøve hadde 98-99% likhet med orf-virus (Orf-11) og parapoxvirus isolert fra reinsdyr i Norge og Finland (1992 og 1994), 92-93% likhet med pseudocowpoxvirus og 87% likhet med bovint papulær stomatittvirus, hvorav de to siste parapoxvirusartene er assosiert med storfé. Disse resultatene viser at også reinsdyr i Finnmark er infisert av parapoxvirus, til tross for at sykdommen munnskurv ikke ennå er rapportert hos rein i dette fylket. Alfaherpes- og pestivirus antistoffer ble funnet hos henholdsvis 10% og 33% av dyrene. Dette er i samsvar med tidligere funn på slaktedyr, og viser at disse virusinfeksjonene er endemiske hos rein i Finnmark. Det er viktig å avklare hvilken rolle disse virusinfeksjonene spiller for reinsdyrenes helse og næringens økonomi. Videre bør det avklares i hvilken grad disse virustypene er i stand til å smitte mellom rein og husdyr.

scholarly journals Molecular characterization of Orf virus isolates from Kodai hills, Tamil Nadu, India

2019 ◽  
Vol 12 (7) ◽  
pp. 1022-1027
Author(s):  
G. Nagarajan ◽  
R. Pourouchottamane ◽  
G. B. Manjunatha Reddy ◽  
R. Yogisharadhya ◽  
K. Sumana ◽  
...  
Keyword(s):  
Tamil Nadu ◽  
Skin Lesions ◽  
Amino Acid Identity ◽  
Orf Virus ◽  
Research Centre ◽  
B2l Gene ◽  
Bovine Papular Stomatitis Virus ◽  
Polymerase Chain ◽  
Reference Strains

Aim: The present study was carried out to find out the causative agent of exanthematous skin lesions in sheep maintained by Southern Regional Research Centre, Mannavanur, Kodai hills, Tamil Nadu. Materials and Methods: Polymerase chain reaction (PCR) with Orf virus (ORFV) B2L gene-specific primers was carried out by employing the total genomic DNA isolated from the scabs as the template. The ORFV isolates from Kodai hills were characterized by the use of bioinformatics tools. Results: The amino acid identity of ORFV isolate 1 from Kodai hills is having 98.14%, 96.29%, and 83.59% identity with reference strains of ORFV, Pseudocowpox virus, and bovine papular stomatitis virus, respectively. Phylogenetic analysis revealed that ORFV isolates from Kodai hills clustered with the other ORFV isolates from different geographical areas of India. Conclusion: The etiological agent of exanthematous skin lesion among sheep of Kodai hills is ORFV.

scholarly journals Calf mortality of semi-domesticated reindeer (Rangifer tarandus tarandus) in the Finnish reindeer-herding area

Rangifer ◽  
2013 ◽  
pp. 79-90 ◽  
Author(s):  
Mauri Nieminen ◽  
Harri Norberg ◽  
Veikko Maijala
Keyword(s):  
Birth Weight ◽  
Rangifer Tarandus ◽  
Total Mortality ◽  
Reindeer Herding ◽  
Brown Bears ◽  
Rangifer Tarandus Tarandus ◽  
Golden Eagles ◽  
Calf Mortality ◽  
Annual Mortality

During 1999-2008 calf mortality was studied in six reindeer-herding cooperatives in Northern Finland, where 3942 semi-domesticated reindeer (Rangifer tarandus tarandus) calves were equipped with radio mortality collars. The calves were weighed and earmarked mostly at 2-5 days of age, or at 2-8 weeks of age. Altogether 460 dead radio-collared calves were found from calving in May until winter round-ups in October-January. In northern mountain herding cooperatives, the average mortality of calves varied between 7-12%. On average, 39-54% of calves found dead were attributed to predation. Golden eagles killed 0-3.5% of calves in different years and areas in Ivalo and Käsivarsi cooperatives. Golden eagles were responsible for 33-43% of the cases and 84-93% of all identified predation. Most calves killed by golden eagles were found in July-August and in open areas. Calves killed by golden eagles were significantly (P<0.01) lighter than those not predated. No predation occurred in the Poikajärvi cooperative, but the annual mortality of calves varied between 0-35% in cooperatives near the Russian border. In Oivanki cooperative brown bears killed on average 2% of the radio-collared calves. Most predation (87%) occurred at the end of May and in early June. In the Kallioluoma cooperative, predator-killed calves found comprised 53% and wolf-killed 45%. Predation was 70% of total mortality in the Halla cooperative, and predation by wolf, bear, lynx and wolverine comprised on average 38%, 20%, 9% and 2.3%, respectively. The sex and pelt color did not significantly affect survival of calves. Birth weight of calves killed by bears was significantly (P<0.01) lighter than those not killed, but those calves killed by lynxes were significantly (P<0.05) heavier than that survived. Bears killed calves mainly in May-July, wolves in July-October and lynx in August-December.

scholarly journals Prevalence of gastrointestinal nematodes in winter slaughtered reindeer of northern Finland

Rangifer ◽  
2009 ◽  
Vol 27 (2) ◽  
pp. 133 ◽  
Author(s):  
Jackie T. Hrabok ◽  
Antti Oksanen ◽  
Mauri Nieminen ◽  
Peter J. Waller
Keyword(s):  
Rangifer Tarandus ◽  
Gastrointestinal Nematodes ◽  
Reindeer Herding ◽  
Male And Female ◽  
Low Intensity ◽  
Rangifer Tarandus Tarandus ◽  
High Prevalence ◽  
Low Levels

The objective of this study was to determine the prevalence and intensity of gastrointestinal nematodes in winter-slaughtered reindeer during 2002-2004, from northern reindeer herding cooperatives in Finland. Ostertagia gruehneri of the abomasum was prevalent with low levels of infections in 100% of calves, (n = 53; mean ≈ 1300 worms per animal) and in 98% of adults, (n = 41; mean ≈ 3900 worms per animal). There was no difference in the number of O. gruehneri between male and female calves. The proportion of O. gruehneri inhibited larvae was significantly higher in calves (81%) than in adult reindeer (39%) (P = 0.005). The intestinal nematodes, Nematodirus tarandi and Nematodirella longispiculata, were detected only in reindeer calves. The numbers of these worms did not differ between male and female calves, but there was a difference in abundance between sites. High prevalence and low intensity of gastrointestinal nematodes characterized the patterns of infection of the reindeer examined in this study. It is assumed that these infections are sub-clinical and would not contribute to productivity losses.Abstract in Finnish / Lyhennelmä:Ruuansulatuskanavan sukkulamatojen esiintyminen talvella teurastetuissa pohjoissuomalaisissa poroissa Tämän työn tavoitteena oli määrittää ruuansulatuskanavan sukkulamatojen prevalenssi ja tartunnan aste talvella teurastetuissa Suomen pohjoisten paliskuntien poroissa vuosina 2002-2004. Juoksutusmahan Ostertagia gruehneri –loisella oli korkea prevalenssi, mutta infektion aste (matojen lukumäärä) oli melko matala; 100% vasoista oli infektoituneita (n = 53; keskimäärin 1300 matoa mahassa) ja 98% aikuisista (n = 41, keskimäärin 3900 matoa). Juoksutusmahamatojen määrissä ei ollut eroja naaras- ja urosvasojen välillä. Kehityksessään estyneiden (pysähtyneiden) O. gruehneri –matojen osuus oli tilastollisesti merkitsevästi korkeampi vasoilla (81%) kuin aikuisilla poroilla (39%) (P = 0.005). Suolistosukkulamatoja Nematodirus tarandi ja Nematodirella longispiculata tavattiin ainoastaan vasoilla. Näiden matojen määrä ei eronnut naaras- ja urosvasojen välillä, mutta maantieteellisiä eroja yleisyydessä havaittiin. Tutkimuksen poroille leimallinen loisten korkea prevalenssi ja matala infektioaste viittaa oireettomuuteen ja siihen, että ne ehkä eivät aiheuta tuotantotappioita. Abstract in Norwegian / Sammendrag: Prosentvis forekomst (prevalens) av rundmark (nematoder) i mage-tarm fra vinterslakta rein i nordlige Finland Studien ble gjennomført på rein (Rangifer tarandus tarandus) fra nordlige reindistrikter i Finland i perioden 2002 til 2004. Rundmarken Ostertagia gruehneri fra løpemagen var vanlig og fantes i lavt infeksjonsnivå (dvs. i relativt lite antall) i alle undersøkte kalver (100% forekomst i 53 dyr med et gjennomsnittlig antall marker per kalv på ca 1300) og i 98% av de 41 undersøkte voksne dyrene der gjennomsnittet per voksent dyr var ca 3900 marker. Andelen med hvilende (inhiberte) larver var statistisk sannsynlig høyere i kalver (81%) enn i voksen rein (39%) (P = 0.05). Tarmnematodene Nematodirus tarandi og Nematodirella longispiculata fantes bare i kalver. Her varierte prosentvis infeksjon fra 25% til 100% i flokkene. Det var ingen forskjell i intensitet (antall mark) mellom han- og hunkalver. Høy prevalens og lav intensitet var det karakteristiske infeksjonsmønsteret i denne studien. Vi antar derfor at infeksjonene er ubetydelige (er subkliniske) og at de ikke vil bidra til produksjonstap.

scholarly journals A Screening for Virus Infections in Eight Herds of Semi-domesticated Eurasian Tundra Reindeer (Rangifer tarandus tarandus) in Norway, 2013–2018

2021 ◽  
Vol 8 ◽  
Author(s):  
Morten Tryland ◽  
Javier Sánchez Romano ◽  
Ingebjørg Helena Nymo ◽  
Eva Marie Breines ◽  
Francisco Javier Ancin Murguzur ◽  
...  
Keyword(s):  
Rangifer Tarandus ◽  
Disease Outbreaks ◽  
Virus Infections ◽  
Reindeer Herding ◽  
Serological Tests ◽  
Viral Pathogen ◽  
Blood Samples ◽  
Rangifer Tarandus Tarandus ◽  
Total Prevalence ◽  
Infectious Keratoconjunctivitis

Background: Previous serological screenings have indicated that Eurasian semi-domesticated tundra reindeer (Rangifer tarandus tarandus) in Finnmark, Northern Norway, are exposed to alphaherpesvirus, gammaherpesvirus and pestivirus. Alphaherpesvirus (i.e., Cervid herpesvirus 2; CvHV2) has been identified as the transmissible component of infectious keratoconjunctivitis (IKC). Limited knowledge exists on the presence and prevalence of virus infections in other herding regions in Norway, which are hosting ~67,000 semi-domesticated reindeer and have contact with other species and populations of wildlife and livestock than those present in Finnmark.Methods: Blood samples (n = 618) were obtained over five winter seasons (2013–2018), from eight different herds representing summer pasture districts in Tana, Lakselv, Tromsø, Lødingen, Hattfjelldal, Fosen, Røros, and Filefjell, distributed from North to South of the reindeer herding regions in Norway. Blood samples were investigated for specific antibodies against five viral pathogen groups, alphaherpesvirus, gammaherpesvirus (viruses in the malignant catarrhal fever group; MCFV), pestivirus, bluetongue virus (BTV), and Schmallenberg virus (SBV), by using commercial multispecies serological tests (ELISA). In addition, swab samples obtained from the nasal mucosal membrane from 486 reindeer were investigated by PCR for parapoxvirus-specific DNA.Results: Antibodies against aphaherpesvirus and MCFV were found in all eight herds, with a total prevalence of 42% (range 21–62%) and 11% (range 2–15%), respectively. Anti-Pestivirus antibodies were detected in five of eight herds, with a total prevalence of 19% (range 0–52%), with two of the herds having a particularly high seroprevalence. Antibodies against BTV or SBV were not detected in any of the animals. Parapoxvirus-specific DNA was detected in two animals representing two different herds in Finnmark.Conclusions: This study confirmed that alphaherpesvirus and MCFV are enzootic throughout the geographical reindeer herding regions in Norway, and that pestivirus is present in most of the herds, with varying seroprevalence. No exposure to BTV and SBV was evident. This study also indicated that semi-domesticated reindeer in Finnmark are exposed to parapoxvirus without disease outbreaks being reported from this region.

scholarly journals Reindeer (Rangifer tarandus tarandus) feeding on lichens and mushrooms: traditional ecological knowledge among reindeer-herding Sami in northern Sweden

Rangifer ◽  
2009 ◽  
Vol 27 (2) ◽  
pp. 93 ◽  
Author(s):  
Berit Inga
Keyword(s):  
Pinus Sylvestris ◽  
Rangifer Tarandus ◽  
Ecological Knowledge ◽  
Northern Sweden ◽  
Reindeer Herding ◽  
General Terms ◽  
Rangifer Tarandus Tarandus ◽  
Winter Grazing ◽  
Grazing Area ◽  
Snow Conditions

The study was performed in four reindeer-herding districts (Sami villages) in northern Sweden. Reindeer herding Sami, born in 1950 or earlier, were interviewed about reindeer foraging behaviour on lichens and mushrooms, especially relating to non-summer grazing habits, and about characteristics of a good winter feeding ground. The informants claimed that lichens are preferably grazed in the wintertime, but that they also may be eaten in the summertime when the weather is cold and humid. Mushrooms were chosen in the autumn months August and September, but according to some informants mushrooms may also be eaten during late autumn (from Oct.) when frozen and under the snow. The reindeer herders had different names for lichens, which in general terms describe their appearance and habitat. For mushrooms they only used one Sami name. Ground lichens preferred by reindeer are Cladonia species, while the nitrogen-fixing lichen species such as Nephroma arcticum and Stereocaulon pascale were said not to be preferred by the reindeer. Snow conditions are very important, and the less snow (and the softer it is), the better. Habitats where reindeer herders know from experience that snow conditions tend to be problematic, e.g. in moist and open areas with small trees, are used early in the winter (Oct.–Jan.), before too much snow has accumulated. A good winter grazing area should have lichens. It is preferably a dry pine (Pinus sylvestris) forest heath with large, old and wide-crowned trees to shelter the ground from snow and thereby ease the cratering by reindeer. Abstract in Swedish / Sammanfattning: Renens (Rangifer tarandus tarandus) bete av lavar och svampar: Traditionell ekologisk kunskap bland renskötande samer i norra Sverige Studien genomfördes i fyra renskötseldistrikt (samebyar) i norra Sverige. Totalt 22 renskötande samer, födda 1950 eller tidigare, blev intervjuade om renens betande av lavar och svampar, renens vinterbete och om vad som karaktäriserar ett bra vinterbetesland. Informanterna hävdade att lavar företrädesvis betas under vintern, men även kan betas under sommaren då vädret är kallt och fuktigt. Svampar betas under höstmånaderna augusti och september, men enligt några informanter kan svamp även betas senare på hösten (från oktober) när den är frusen och under snön. Renskötarna har namn på lavar som i generella termer beskriver deras utseende och växtplats. För svampar använder de enbart ett samiskt namn, guoppar. Av de marklevande lavarna ansåg informanterna att renarna föredrar Cladonia-arter (renlavar), medan kväve-fixerade arter som Nephroma arcticum (norrlandslav) och Stereocaulon pascale (påskrislav) inte ansågs föredras av renarna. Snöförhållandena är mycket viktiga, och ju mindre snö (och ju lösare den är) desto bättre. Växtplatser där renskötarna vet av erfarenhet att snöförhållandena kan bli problematisk, t.ex. i fuktiga och öppna områden med små träd, används till bete tidigt under vintern (oktober-januari) innan för mycket snö har fallit. Ett bra vinterbetesområde ska ha gott om lavar. Det bästa är en torr tallhed (Pinus sylvestris) med stora och gamla träd med vida kronor som fångar upp snön som upplega och på det viset skyddar marken från snö, vilket gör det lättare för renarna att gräva.

scholarly journals Identification and phylogenetic analysis of contagious ecthyma virus from camels (Camelus dromedarius) in Iran

2017 ◽  
Vol 84 (1) ◽  
Author(s):  
Ahmad Oryan ◽  
Mahboobe Mosadeghhesari ◽  
Saeed Zibaee ◽  
Ali Mohammadi
Keyword(s):  
Polymerase Chain Reaction ◽  
Phylogenetic Analysis ◽  
Camelus Dromedarius ◽  
Contagious Ecthyma ◽  
Dromedary Camels ◽  
Chain Reaction ◽  
B2l Gene ◽  
Bovine Papular Stomatitis Virus ◽  
Specific Amplification ◽  
Polymerase Chain

Contagious ecthyma is a highly contagious disease affecting domestic and wild ruminants such as sheep, goats and camels. The identification and characterisation of a parapoxvirus (PPV) infecting camels is described here. The virus was detected in dromedary camels (Camelus dromedarius) from Kerman and Shiraz in Iran. PPV-specific amplification by polymerase chain reaction (PCR) further confirmed that the disease was associated with PPV infection. Phylogenetic analysis of ORF011 (B2L) gene sequences showed 99.79% and 82.13% similarity of the PPV identified in this study with the Jodhpur isolate and the bovine papular stomatitis virus (BPSV) isolates (CE41), respectively. Moreover, phylogenetic analysis of the ORF045 gene indicated that the Shiraz sample was in all probability closely related to VR634 and to F00.120R and PCPV776. In conclusion, the results suggest that camel PPV (CPPV) is a likely cause of contagious ecthyma in dromedary camels in Iran.

scholarly journals Insect avoidance may override human disturbances in reindeer habitat selection

Rangifer ◽  
2004 ◽  
Vol 24 (2) ◽  
pp. 95-103 ◽  
Author(s):  
Anna Skarin ◽  
Öje Danell ◽  
Roger Bergström ◽  
Jon Moen
Keyword(s):  
Wind Speed ◽  
Habitat Selection ◽  
Rangifer Tarandus ◽  
Faecal Pellet ◽  
Reindeer Herding ◽  
Human Disturbances ◽  
Pellet Group ◽  
Direct Observations ◽  
Rangifer Tarandus Tarandus ◽  
Insect Harassment

Habitat selection of semi-domesticated reindeer (Rangifer tarandus tarandus) was investigated through faecal pellet- group counts and by direct observations of reindeer from helicopter in the Långfjället area in Idre reindeer herding district (62˚10’N) and in Mittådalen reindeer herding district (62˚50’N, aerial observations only). Reindeer pellets were found to be most abundant in habitats at high altitudes, and in some vegetation types. Pellet-group densities tended to be higher near the tourist trails, which often follow higher altitudes in the terrain. The aerial surveys showed that the reindeer moved towards higher altitudes when the wind speed was low and the temperature was high both in June and July. In June they moved towards lower regions when temperature was low and the wind speed was strong. The conclusion is that the reindeer use Långfjället to escape insect harassment and warm weather, even though disturbance by tourism sometimes is high.Abstract in Swedish / Sammanfattning:Habitatval hos tamren (Rangifer tarandus tarandus) undersöktes genom att göra en spillningsinventering och genom att göra flygobservationer från helikopter. Studien gjordes på Långfjället (62˚10’N) i Idre nya sameby och i Mittådalens samebys sommarbetesområde (62˚50’N, endast flygobservationer). På Långfjället finns det vandringsleder som är frekventerade av vandrare från juni månad fram till september. Spillningen visade att renarna föredrog höjderna i området samt en del av vegetationstyperna. Det var också mer spillning närmare vandringslederna. Detta kan förklaras av att vandringslederna följer höjderna i terrängen. Flyginventeringarna under både juni och juli visade att renarna rörde sig mot högre terräng när det var varmt och lugnt väder. I juni rörde dom sig också i lägre terräng när det var stark vind och kallt väder. Slutsatsen är att renarna väljer att vistas i högre terräng för att undvika störningar från insekter och för att finna svalka trots att det är mänsklig aktivitet i området.

scholarly journals Molecular characterization and phylogenetic analysis of orf virus isolated from goats in Sokoto metropolis, Nigeria

2021 ◽  
pp. FSO700
Author(s):  
Nafi'u Lawal ◽  
Mubarak Ibrahim ◽  
Dauda Ayomide Onawala ◽  
Muhammad Bashir Bello ◽  
Rabiu Muhammad Aliyu ◽  
...  
Keyword(s):  
Genetic Characterization ◽  
Orf Virus ◽  
Coding Region ◽  
B2l Gene ◽  
Polymerase Chain ◽  
Chicken Eggs ◽  
Unique Amino Acid ◽  
Close Genetic Relationship ◽  
Embryonated Chicken

Aim: The aim of this study was to molecularly characterize orf virus isolated from clinical infections in goats in Sokoto metropolis. Materials & methods: Embryonated chicken eggs were used to isolate orf virus according to the established protocol. Viral DNA was extracted and full coding region of B2L gene was amplified by polymerase chain reaction, sequenced and blasted for identification and phylogenetically analyzed. Results and discussion: The B2L gene sequences of the isolate showed slight variability (96–98.7%) with the reference sequences as it clustered within the same clade with Korean, Zambian and Ethiopian strains, signifying a close genetic relationship. Unique amino acid substitutions were noted. This is the first genetic characterization of B2L gene of orf virus circulating in Nigeria. Conclusion: This study has provided in sight into the genetic diversity of orf virus in the study area.

Detection of the Glanzmann's Thrombasthenia Mutations in Arab and Iraqi-Jewish Patients by Polymerase Chain Reaction and Restriction Analysis of Blood or Urine Samples

1991 ◽  
Vol 66 (04) ◽  
pp. 500-504 ◽  
Author(s):  
H Peretz ◽  
U Seligsohn ◽  
E Zwang ◽  
B S Coller ◽  
P J Newman
Keyword(s):  
Polymerase Chain Reaction ◽  
Base Pair ◽  
Restriction Analysis ◽  
Urine Samples ◽  
Chain Reaction ◽  
Base Pairs ◽  
Glanzmann’S Thrombasthenia ◽  
Glanzmann's Thrombasthenia ◽  
Base Pair Deletion ◽  
Polymerase Chain

SummarySevere Glanzmann's thrombasthenia is relatively frequent in Iraqi-Jews and Arabs residing in Israel. We have recently described the mutations responsible for the disease in Iraqi-Jews – an 11 base pair deletion in exon 12 of the glycoprotein IIIa gene, and in Arabs – a 13 base pair deletion at the AG acceptor splice site of exon 4 on the glycoprotein IIb gene. In this communication we show that the Iraqi-Jewish mutation can be identified directly by polymerase chain reaction and gel electrophoresis. With specially designed oligonucleotide primers encompassing the mutation site, an 80 base pair segment amplified in healthy controls was clearly distinguished from the 69 base pair segment produced in patients. Patients from 11 unrelated Iraqi-Jewish families had the same mutation. The Arab mutation was identified by first amplifying a DNA segment consisting of 312 base pairs in controls and of 299 base pairs in patients, and then digestion by a restriction enzyme Stu-1, which recognizes a site that is absent in the mutant gene. In controls the 312 bp segment was digested into 235 and 77 bp fragments, while in patients there was no change in the size of the amplified 299 bp segment. The mutation was found in patients from 3 out of 5 unrelated Arab families. Both Iraqi-Jewish and Arab mutations were detectable in DNA extracted from blood and urine samples. The described simple methods of identifying the mutations should be useful for detection of the numerous potential carriers among the affected kindreds and for prenatal diagnosis using DNA extracted from chorionic villi samples.

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