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HLA polymorphism in Lombardy defined by high-resolution typing methods

Studio in alta risoluzione dei polimorfismi HLA nella popolazione Lombarda

  • Original Article
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La Rivista Italiana della Medicina di Laboratorio - Italian Journal of Laboratory Medicine

Summary

Background

Population data on the HLA system are important to several areas of medicine and science. HLA-A*, B*, C*, DRB1* and DQB1* allele and haplotype frequencies in 105 unrelated healthy Italian individuals from Lombardy were estimated.

Methods

Commercial kits with sequence-specific primers designed to match single alleles were used for specific primer polymerase chain reactions (PCR-SSP) to determine HLA class I (HLA-A*, B* and C* loci) and class II (HLA-DRB1*, DQB1* loci) alleles. For HLA-DRB1* single allele-specific amplification and sequencing was also used separately, using a Protrans S4 commercial kit.

Results

A total of 16 HLA-A*, 22 HLA-B*, 14 HLA-C*, 20 DRB1* and 12 DQB1* alleles showing a frequency >1% were identified at the four-digit level in the population. The highest frequency alleles included A*02:01 (13.3%), B*51:01 (9.5%), C*04:01 (20.5%), DRB1* 11:01 (13.8%) and DQB1*03:01 (33.8%). The most frequent extensive haplotype was A*01:01-C*07:01 B*08:01-DRB1*03:01-DQB1*02:01 with a haplotype frequency of 2.4%.

Conclusions

The present findings could be useful to elucidate the genetic background of the population, and to provide data for HLA matching in clinical transplantation, information on the distribution of HLA genotypes in different populations for the development of peptidebased vaccines, and information for paternity diagnosis and on evolutionary factors such as genetic drift, migration and selection.

Riassunto

Premesse

L’analisi del polimorfismo genico del sistema HLA nelle popolazioni riveste grande importanza negli studi antropologici, sulla variabilità genetica microgeografica, negli studi di associazione HLA e malattie, negli studi epidemiologici e di medicina forense. Scopo del presente lavoro è stato quello di ricercare eventuali peculiarità genetiche in una popolazione costituita da 105 individui sani, non imparentati, di etnia caucasica, residenti in Lombardia, per mezzo di tipizzazione HLA molecolare ad alta risoluzione (4 digit).

Metodi

La tipizzazione molecolare degli alleli HLA, rispettivamente ai loci A*, B*, C*, DRB1* e DQB1*, è stata analizzata con tecnica PCR-SSP utilizzando kit commerciali primer sequenza-specifica per singolo allele. L’analisi molecolare del locus l’HLA-DRB1* è stata condotta anche con tecnica di sequenziamento (SBT) con kit commerciale “Protrans S4”.

Risultati

Gli alleli che mostravano una frequenza >1% sono risultati rispettivamente 16 per il locus HLA-A*, 22 per il HLA-B*, 14 per il HLA-C*, 20 per il DRB1* e 12 per il DQB1*. L’aplotipo HLA più esteso a più alta frequenza (2,4%) è risultato quello costituito dai loci A*01:01-C*07:01-B*08:01-DRB1*03:01-DQB1*02:01.

Conclusioni

I dati ottenuti in questo studio possono essere utilizzati per consentire una migliore analisi del background genetico della popolazione lombarda e nello stesso tempo per fornire un valido strumento ai fini dei trapianti di cellule staminali emopoietiche, nello studio di vaccini, nella diagnosi di paternità e negli studi antropologici sulla derive genetiche, sulle migrazioni e sulla selezione naturale.

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Authors and Affiliations

  1. Transfusion Medicine and Immunohematology Unit, Santa Chiara Hospital, Largo Medaglie d’Oro 9, 38122, Trento, Italy

    Attilio Fabio Cristallo, Nadia Ceschini & Paolo Gottardi

  2. Transfusion Medicine and Immunohematology Unit, HLA Laboratory, Niguarda Ca’ Granda Hospital, Milan, Italy

    Giuliana Lando, Umberto Rossi & Giambattista Bertani

  3. Department of Surgery and Immunology Unit, San Martino Hospital and University of Genoa, Genoa, Italy

    Gregorio Santori, Federico Barocci & Sergio Barocci

  4. Biochemistry and Molecular Biology Laboratory, Niguarda Ca’ Granda Hospital, Milan, Italy

    Salvatore Cassano

  5. Transfusion Medicine and Immunohematology Unit, Santa Chiara Hospital, Largo Medaglie d’Oro 9, 38122, Trento, Italy

    Attilio Fabio Cristallo

Authors
  1. Attilio Fabio Cristallo
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  2. Giuliana Lando
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  3. Umberto Rossi
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  4. Giambattista Bertani
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  5. Gregorio Santori
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  6. Nadia Ceschini
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  7. Paolo Gottardi
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  8. Federico Barocci
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  9. Salvatore Cassano
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  10. Sergio Barocci
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Correspondence to Attilio Fabio Cristallo.

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Cristallo, A.F., Lando, G., Rossi, U. et al. HLA polymorphism in Lombardy defined by high-resolution typing methods. Riv Ital Med Lab 8, 149–154 (2012). https://doi.org/10.1007/s13631-012-0055-y

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  • DOI: https://doi.org/10.1007/s13631-012-0055-y

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