Y-GATA-H4

General Informations

»There are differences in allele designations at the GATA H4 marker between those recommended in the Applied Biosystems AmpFlSTR® Yfiler™ polymerase chain reaction amplification kit (Applied Biosystems, Foster City, CA, United States) and the ISFG recommendations. The nomenclature for the GATA H4 marker in the Yfiler kit is based on the allele repeat structure defined by the National Institute of Standards and Technology Standard reference material (SRM) 2395 and the work of Butler et al. 2002. In the Yfiler kit the variable core repeat (TAGA) is used to designate the alleles (such as alleles 8–13 in the allelic ladder of the Yfiler kit) (see NIST Y-STR Web site and Mulero et al. 2006). Furthermore, the Yfiler kit primers amplify the region now designated as the GATA H4.1 locus as defined by Gusmao et al. 2002 and recommended by the ISFG DNA Commission (Gusmao et al. 2006). The GATA H4.1 locus structure consists of a core repeat region designated as AGAT and nonvariable tetranucleotide repeats ((AGAT)₄ CTAT(AGAT)₂ (AGGT)₃ (AGAT)_n ) that are considered for allele number designation under the ISFG recommendations. Thus, there is a difference in allele nomenclature that depends on whether or not the nonvariable region is included.« (taken from Mulero et al. 2006)

This database is using the Applied Biosystems AmpFlSTR® Yfiler™ nomenclature. In order to convert the allele nomenclature according to the ISFG recommendations (Gusmao et al. 2006) add +9 repeat units (Mulero et al. 2006).

Mutation Rates

Reference	Mutations	Meioses	Mutation Rate with 95% Confidence Intervall
Pontes et al. 2007	0	45	0 ( 95% CI: 0 – 7.871 × 10^-2 )
Sanchez Diz et al. 2008	1	701	1.427 × 10^-3 ( 95% CI: 3.612 × 10^-5 – 7.922 × 10^-3 )
Turrina et al. 2006	0	50	0 ( 95% CI: 0 – 7.112 × 10^-2 )
Berger et al. 2005	0	70	0 ( 95% CI: 0 – 5.133 × 10^-2 )
Goedbloed et al. 2009	5	1,755	2.849 × 10^-3 ( 95% CI: 9.257 × 10^-4 – 6.636 × 10^-3 )
Lee et al. 2007	1	369	2.71 × 10^-3 ( 95% CI: 6.861 × 10^-5 – 1.501 × 10^-2 )
Decker et al. 2008	3	389	7.712 × 10^-3 ( 95% CI: 1.593 × 10^-3 – 2.237 × 10^-2 )
Kurihara et al. 2004	1	161	6.211 × 10^-3 ( 95% CI: 1.572 × 10^-4 – 3.412 × 10^-2 )
Gusmao et al. 2005	2	875	2.286 × 10^-3 ( 95% CI: 2.769 × 10^-4 – 8.232 × 10^-3 )
Ge et al. 2009	5	2,913	1.716 × 10^-3 ( 95% CI: 5.576 × 10^-4 – 4.001 × 10^-3 )
Gerhard Baessler, Stuttgart, Germany (pers. communication)	0	67	0 ( 95% CI: 0 – 5.357 × 10^-2 )
(Summarized)	18	7,395	2.434 × 10^-3 ( 95% CI: 1.443 × 10^-3 – 3.844 × 10^-3 )