Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

Annals of Human Genetics

Volumn 76, Issue 2, 2012, Pages 159-167

  Gialluisi, Alessandro ^a   Pippucci, Tommaso ^a   Anikster, Yair ^b   Ozbek, Ugur ^c   Medlej Hashim, Myrna ^d,e   Mégarbané, Andre ^d   Romeo, Giovanni ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b SHEBA MEDICAL CENTER   (Israel)

^c ISTANBUL UNIVERSITY   (Turkey)

^d SAINT JOSEPH UNIVERSITY   (Lebanon)

^e LEBANESE UNIVERSITY   (Lebanon)

Author keywords

Autosomal recessive disorders; Disease allele frequency; Homozygosity index; Inbreeding

Indexed keywords

MEDITERRANEAN FEVER PROTEIN; PHENYLALANINE 4 MONOOXYGENASE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CONSANGUINITY; FAMILIAL MEDITERRANEAN FEVER; GENE FREQUENCY; GENE MUTATION; GENETIC MODEL; GENOTYPE; HOMOZYGOSITY; HOMOZYGOSITY INDEX; HUMAN; ISRAEL; LEBANON; MUTATIONAL ANALYSIS; PHENYLKETONURIA; POPULATION GENETICS; PRIORITY JOURNAL; PROGENY; SAMPLE SIZE; TURKEY (REPUBLIC);

CONSANGUINITY; FAMILIAL MEDITERRANEAN FEVER; FEASIBILITY STUDIES; GENE FREQUENCY; GENES, RECESSIVE; GENETIC DISEASES, INBORN; HOMOZYGOTE; HUMANS; MODELS, GENETIC; MUTATION; PHENYLKETONURIAS;

EID: 84857064423     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2011.00693.x     Document Type: Article

References (27)

1. Berchovich, D., Elimelech, A., Yardeni, T., Korem, S., Gal, N., Goldstein N., Vilensky, B., Segev, R., Avraham, S., Loewenthal, R., Schwarts, G. & Anikster, Y. (2008a) A mutation analysis of the Phenylalanine Hydroxylase (PAH) gene in the Israeli population. Ann Hum Genet 72, 305-309.
2. Berchovich, D., Elimelech, A., Zlotogora, J., Korem, S., Yardeni, T., Gal, N., Goldstein, N., Vilensky, B., Segev, R., Avraham, S., Loewenthal, R., Schwarts, G. & Anikster, Y. (2008b) Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene. J Hum Genet 53, 407-418.
3. Carothers, A.D., Rudan, I., Kolcic, I., Hayward, C., Wright, A.F., Campbel, H., Teague, P., Hastie, N.D. & Weber, J.L. (2006) Estimating human inbreeding coefficients: Comparison of genealogical and marker heterozygosity approaches. Ann Hum Genet 70, 666-676.
4. Cavalli-Sforza, L.L., Moroni, A. & Zei, G. (2004) Consanguinity, inbreeding and genetic drift in Italy. Princeton, NJ: Princeton University Press.
5. Dahlberg, G. (1948) Mathematic methods for population genetics. Basel: S. Karger.
6. Dinc, A., Pay, S., Turan, M. & Simsek, I. (2000) Prevalence of Familial Mediterranean Fever in young Turkish men. Clin Exp Rheumatol 18, 292.
7. El-Shanti, H., Abdel, Majeed H. & El-Khateeb, M. (2006) Familial Mediterranean fever in Arabs. Lancet 367, 1016-1024.
8. Leutenegger, A.L., Prum, B., Génin, E., Verny, C., Lemainque, A., Clerget-Darpoux, F. & Thomson, E.A. (2003) Estimation of the inbreeding coefficient through the use of genomic data. Am J Hum Genet 73, 516-523.
9. Li, C.C. (1955) Population Genetics. Chicago: University of Chicago Press.
10. Mattit, H., Joma, M., Al-Cheikh, S., El-Khateeb, M., Medlej-Hashim, M., Salem, N., Delague, V. & Mégarbané, A. (2006) Familial Mediterranean Fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype-genotype correlation. Eur J Hum Genet 49, 481-486.
11. McQuillan, R., Leutenegger, A.L., Abdel-Rahman, R., Franklin, C.S., Pericic, M. Barac-Lauc, L., Smolej-Narancic, N., Janicijevic, B., Polasek, O., Tenesa, A., MacLeod, A.K., Farrington, S.M., Rudan, P., Hayward, C., Vitart, V., Rudan, I., Wild, S.H., Dunlop, M.G., Wright, A.F., Campbell, H. & Wilson, J.F. (2008) Runs of Homozygosity in European populations. Am J Hum Genet 83, 359-372.
12. Medlej-Hashim, M., Serre, J.L., Corbani, S., Saab, O., Delague, V., Chouery, E., Salem, N., Loiselet, J., Lefranc, G. & Mégarbané, A. (2005) Familial Mediterranean fever (FMF) in Lebanon and Jordan: A population genetics study and report of three novel mutations. Eur J Med Genet 48, 412-420.
13. Moradian, M.M., Sarkisian, T., Ajrapetyan, H. & Avanesian, N. (2010) Genotype-phenotype studies in a large cohort of Armenian patients with Familial Mediterranean Fever suggest clinical disease with heterozygous MEFV mutations. J Hum Genet 55, 389-393.
14. Ozcelik, T., Kanaan, M., Avraham, K.B., Yannoukakos, D., Megarbane A., Tadmouri, G.O., Middleton, L., Romeo, G., King, M.C. & Levy-Lahad, E. (2010) Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet 42, 641-645.
15. Ozen, S., Karaaslan, Y., Ozdemir, O., Saacti, U., Baakkaloglu, A., Koroglu, E. & Tezcan, S. (1998) Prevalence of juvenile chronic arthritis and Familial Mediterranean Fever in Turkey: A field study. J Rheumatol 25, 2445-2449.
16. Polašek, O., Hayward, C., Bellenguez, C., Vitart, V., Kolcic, I., McQuillan, R., Saftic, V., Gyllensten, U., Wilson, J.F., Rudan, I., Wright, A.F., Campbell, H. & Leutenegger, A.L. (2010) Comparative assessment of methods for estimating individual genome-wide Homozygosity-by-descent from human genomic data. BMC Genomics 11, 139-148.
17. Romeo, G., Menozzi, P., Ferlini, A., Fadda, S., Di Donato, S., Uziel, G., Lucci, B., Capodaglio, L., Filla, A. & Campanella, G. (1983a) Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet 35, 523-529.
18. Romeo, G., Menozzi, P., Ferlini, A., Prosperi, L., Cerone, R., Scalisi, S., Romano, C., Antonozzi, I., Riva, E., Piceni Sereni, L., Zammarchi, E., Lenzi, G., Sartorio, R., Andria, G., Cioni, M., Fois, A., Burroni, M., Burlina, A.B. & Carnevale, F. (1983b) Incidence of classic PKU in Italy estimated from consanguineous marriages and from neonatal screening. Clin Genet 24, 339-345.
19. Romeo, G., Bianco, M., Devoto, M., Menozzi, P., Mastella, G., Giunta, A.M., Micalizzi, C., Antonelli, M., Battistini, A., Santamaria, F., Castello, D., Marianelli, A., Marchi, A.G., Manca, A. & Milano, A. (1985) Incidence in Italy, genetic heterogeneity, and segregation analysis of cystic fibrosis. Am J Hum Genet 37, 338-349.
20. Romeo, G. (2010) LSDBs: Promise and Challanges. Hum Mutat31, V.
21. Santos, L.L., Fonseca, C.G., Januário, J.N., Aguiar, M.J.B., Peixoto, M.G.C.D. & Carvalho, M.R.S. (2010) Variations in genotype-phenotype correlations in Phenylketonuria patients. Genet Mol Res 9, 1-8.
22. ten Kate, L.P., Teeuw, M., Henneman, L. & Cornel, M.C. (2010) Autosomal recessive disease in children of consanguineous parents: Inferences from the proportion of compound heterozygous. J Community Genet 1, 37-40.
23. Touitou, I. (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 9, 473-483.
24. van Baal, S., Zlotogora, J., Lagoumintzis, J., Gkantouna, V., Tzimas, I., Poulas, K., Tsakalidis, A., Romeo, G. & Patrinos, G.P. (2010) ETHNOS: A versatile electronic tool for the development and curation of national genetic databases. Hum Genomics 4, 361-368.
25. Woods, C.G., Cox, J., Springell, K., Hampshire, D.J., Mohamed, M.D., McKibbin, M., Stern, R., Raymond, F.L., Sandford, R., Malik Sharif, S., Karbani, G., Ahmed, M., Bond, J., Clayton, D. & Inglehearn, C.F. (2006) Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet 78, 889-896.
26. Yilmaz, R., Ozer, S., Ozyurt, H., Erkorkmaz, U. & Sahin, S. (2009) Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children. J Paediatr Child Health 45, 641-645.
27. Zare-Karizi, Sh., Hosseini-Mazinani, S.M., Khazaei-Koohpar, Z., Seifati, S.M., Shahsavan-Behboodi, B., Akbari, M.T. & Koochmeshgi, J. (2010) Mutation spectrum of phenylketonuria in Iranian population. Mol Genet Metab 102, 29-32.